3962 lines
327 KiB
Text
3962 lines
327 KiB
Text
|
|
|
|
|
|
|
|
|
|
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
|
|
|
|
<head>
|
|
|
|
|
|
|
|
<!--
|
|
################################# CRAWLER WARNING #################################
|
|
|
|
- The terms of service and the robots.txt file disallows crawling of this site,
|
|
please see https://omim.org/help/agreement for more information.
|
|
|
|
- A number of data files are available for download at https://omim.org/downloads.
|
|
|
|
- We have an API which you can learn about at https://omim.org/help/api and register
|
|
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
|
|
|
|
- You should feel free to contact us at https://omim.org/contact to figure out the best
|
|
approach to getting the data you need for your work.
|
|
|
|
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
|
|
|
|
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
|
|
DISTRIBUTED CRAWLS OF THIS SITE.
|
|
|
|
################################# CRAWLER WARNING #################################
|
|
-->
|
|
|
|
|
|
|
|
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
|
|
<meta http-equiv="cache-control" content="no-cache" />
|
|
<meta http-equiv="pragma" content="no-cache" />
|
|
<meta name="robots" content="index, follow" />
|
|
|
|
|
|
<meta name="viewport" content="width=device-width, initial-scale=1" />
|
|
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
|
|
|
|
|
|
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
|
|
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
|
|
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
|
|
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
|
|
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
|
|
contain copious links to other genetics resources." />
|
|
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
|
|
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
|
|
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
|
|
<meta name="theme-color" content="#333333" />
|
|
<link rel="icon" href="/static/omim/favicon.png" />
|
|
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
|
|
<link rel="manifest" href="/static/omim/manifest.json" />
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script id='mimBrowserCapability'>
|
|
function _0x5069(){const _0x4b1387=['91sZIeLc','mimBrowserCapability','15627zshTnf','710004yxXedd','34LxqNYj','match','disconnect','1755955rnzTod','observe','1206216ZRfBWB','575728fqgsYy','webdriver','documentElement','close','open','3086704utbakv','7984143PpiTpt'];_0x5069=function(){return _0x4b1387;};return _0x5069();}function _0xe429(_0x472ead,_0x43eb70){const _0x506916=_0x5069();return _0xe429=function(_0xe42949,_0x1aaefc){_0xe42949=_0xe42949-0x1a9;let _0xe6add8=_0x506916[_0xe42949];return _0xe6add8;},_0xe429(_0x472ead,_0x43eb70);}(function(_0x337daa,_0x401915){const _0x293f03=_0xe429,_0x5811dd=_0x337daa();while(!![]){try{const _0x3dc3a3=parseInt(_0x293f03(0x1b4))/0x1*(-parseInt(_0x293f03(0x1b6))/0x2)+parseInt(_0x293f03(0x1b5))/0x3+parseInt(_0x293f03(0x1b0))/0x4+-parseInt(_0x293f03(0x1b9))/0x5+parseInt(_0x293f03(0x1aa))/0x6+-parseInt(_0x293f03(0x1b2))/0x7*(parseInt(_0x293f03(0x1ab))/0x8)+parseInt(_0x293f03(0x1b1))/0x9;if(_0x3dc3a3===_0x401915)break;else _0x5811dd['push'](_0x5811dd['shift']());}catch(_0x4dd27b){_0x5811dd['push'](_0x5811dd['shift']());}}}(_0x5069,0x84d63),(function(){const _0x9e4c5f=_0xe429,_0x363a26=new MutationObserver(function(){const _0x458b09=_0xe429;if(document!==null){let _0x2f0621=![];navigator[_0x458b09(0x1ac)]!==![]&&(_0x2f0621=!![]);for(const _0x427dda in window){_0x427dda[_0x458b09(0x1b7)](/cdc_[a-z0-9]/ig)&&(_0x2f0621=!![]);}_0x2f0621===!![]?document[_0x458b09(0x1af)]()[_0x458b09(0x1ae)]():(_0x363a26[_0x458b09(0x1b8)](),document['getElementById'](_0x458b09(0x1b3))['remove']());}});_0x363a26[_0x9e4c5f(0x1a9)](document[_0x9e4c5f(0x1ad)],{'childList':!![]});}()));
|
|
</script>
|
|
|
|
|
|
|
|
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
|
|
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
|
|
|
|
<link rel="preconnect" href="https://www.googletagmanager.com" />
|
|
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
|
|
<script>
|
|
window.dataLayer = window.dataLayer || [];
|
|
function gtag(){window.dataLayer.push(arguments);}
|
|
gtag("js", new Date());
|
|
gtag("config", "G-HMPSQC23JJ");
|
|
</script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
|
|
|
|
|
|
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
|
|
|
|
|
|
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimBootstrapDeviceSize">
|
|
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
|
|
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
|
|
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
|
|
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
|
|
</div>
|
|
|
|
|
|
|
|
<title>
|
|
|
|
Entry
|
|
|
|
- #276300 - MISMATCH REPAIR CANCER SYNDROME 1; MMRCS1
|
|
|
|
|
|
- OMIM
|
|
|
|
</title>
|
|
|
|
|
|
|
|
</head>
|
|
|
|
<body>
|
|
<div id="mimBody">
|
|
|
|
|
|
|
|
<div id="mimHeader" class="hidden-print">
|
|
|
|
|
|
|
|
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
|
|
<div class="container-fluid">
|
|
|
|
<!-- Brand and toggle get grouped for better mobile display -->
|
|
<div class="navbar-header">
|
|
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
|
|
<span class="sr-only"> Toggle navigation </span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
</button>
|
|
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
|
|
</div>
|
|
|
|
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
|
|
|
|
<ul class="nav navbar-nav">
|
|
|
|
|
|
<li>
|
|
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
|
|
<li>
|
|
<a href="/statistics/update"> Update List </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/entry"> Entry Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
|
|
|
|
<li>
|
|
<a href="/downloads/"> Register for Downloads </a>
|
|
</li>
|
|
<li>
|
|
<a href="/api"> Register for API Access </a>
|
|
</li>
|
|
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="/contact?mimNumber=276300"><span class="mim-navbar-menu-font"> Contact Us </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li>
|
|
|
|
<a href="/mimmatch/">
|
|
|
|
<span class="mim-navbar-menu-font">
|
|
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
|
|
MIMmatch
|
|
</span>
|
|
</span>
|
|
</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
|
|
<li>
|
|
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
|
|
</li>
|
|
<li>
|
|
<a href="/donors"> Donors </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
|
|
<li>
|
|
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/search"> Search Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/linking"> Linking Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/api"> API Help </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/external"> External Links </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/agreement"> Use Agreement </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/copyright"> Copyright </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimSearch" class="hidden-print">
|
|
|
|
<div class="container">
|
|
|
|
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
|
|
|
|
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
|
|
<input type="hidden" id="mimSearchStart" name="start" value="1" />
|
|
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
|
|
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
|
|
<div class="form-group">
|
|
<div class="input-group">
|
|
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
|
|
<div class="input-group-btn">
|
|
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
|
|
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
|
|
<ul class="dropdown-menu dropdown-menu-right">
|
|
<li class="dropdown-header">
|
|
Advanced Search
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/entry"> OMIM </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/geneMap"> Gene Map </a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/history"> Search History </a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
|
|
<span class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</form>
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
<!-- <div id="mimSearch"> -->
|
|
|
|
|
|
|
|
|
|
<div id="mimContent">
|
|
|
|
|
|
|
|
<div class="container hidden-print">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
|
|
<div id="mimAlertBanner">
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
|
|
|
|
<div id="mimFloatingTocMenu" class="small" role="navigation">
|
|
|
|
<p>
|
|
<span class="h4">#276300</span>
|
|
<br />
|
|
<strong>Table of Contents</strong>
|
|
</p>
|
|
|
|
<nav>
|
|
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
|
|
|
|
<li role="presentation">
|
|
<a href="#title"><strong>Title</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="/clinicalSynopsis/276300"><strong>Clinical Synopsis</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
|
|
<a href="/phenotypicSeries/PS276300"> <strong>Phenotypic Series</strong> </a>
|
|
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#description">Description</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#clinicalFeatures">Clinical Features</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#diagnosis">Diagnosis</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#inheritance">Inheritance</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#clinicalManagement">Clinical Management</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#nomenclature">Nomenclature</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#seeAlso"><strong>See Also</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#references"><strong>References</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#contributors"><strong>Contributors</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#creationDate"><strong>Creation Date</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#editHistory"><strong>Edit History</strong></a>
|
|
</li>
|
|
|
|
</ul>
|
|
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimFloatingLinksMenu">
|
|
|
|
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
|
<h4 class="panel-title">
|
|
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
|
<div style="display: table-row">
|
|
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">External Links</div>
|
|
</div>
|
|
</a>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
|
|
<div id="mimExternalLinksFold" class="collapse in">
|
|
|
|
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">Clinical Resources</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://clinicaltrials.gov/search?cond=MISMATCH REPAIR CANCER SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19731&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1211/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.diseaseinfosearch.org/x/7267" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://medlineplus.gov/genetics/condition/constitutional-mismatch-repair-deficiency-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=276300[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252202" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/8a8aded6-1792-4f0a-b04f-d3a0e86b2587/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Animal Models</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.alliancegenome.org/disease/DOID:0112182" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.informatics.jax.org/disease/276300" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://wormbase.org/resources/disease/DOID:0112182" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cell Lines</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:276300" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
|
|
|
|
</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
|
|
|
<div>
|
|
|
|
<a id="title" class="mim-anchor"></a>
|
|
|
|
<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
|
|
|
|
|
|
|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
|
|
|
|
<strong>SNOMEDCT:</strong> 61665008<br />
|
|
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 252202<br />
|
|
|
|
|
|
<strong>DO:</strong> 0112182<br />
|
|
|
|
|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
276300
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
MISMATCH REPAIR CANCER SYNDROME 1; MMRCS1
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME; CMMRDS<br />
|
|
MISMATCH REPAIR DEFICIENCY<br />
|
|
MMR DEFICIENCY<br />
|
|
CHILDHOOD CANCER SYNDROME<br />
|
|
BRAIN TUMOR-POLYPOSIS SYNDROME 1; BTPS1<br />
|
|
BTP1 SYNDROME<br />
|
|
TURCOT SYNDROME
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/163?start=-3&limit=10&highlight=163">
|
|
3p22.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Mismatch repair cancer syndrome 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276300"> 276300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MLH1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120436"> 120436 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/276300" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS276300" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/276300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/276300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Adenomatous colonic polyps <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/428054006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">428054006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0850572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0850572</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Renal cysts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/722223000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">722223000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887499</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000107</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000107</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pseudoarthrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/410818009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">410818009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31511007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31511007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0033785&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033785</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005864" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005864</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005864" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005864</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cafe-au-lait spots <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201281002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201281002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L81.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L81.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221263</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000957</a>]</span><br /> -
|
|
Neurofibromas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/404029005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">404029005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156930004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156930004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027830&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027830</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001067</a>]</span><br /> -
|
|
Plexiform neurofibromas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41252002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41252002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/403818001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">403818001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206728&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206728</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009732" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009732</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Agenesis of the corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5102002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5102002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0175754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0175754</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span><br /> -
|
|
Gray matter heterotopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253150002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253150002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/448041008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">448041008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266491&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266491</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002282" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002282</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002282" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002282</a>]</span><br /> -
|
|
Intracerebral cyst <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40720005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40720005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G93.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G93.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/348.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">348.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0154724&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0154724</a>]</span><br /> -
|
|
Interhemispheric cyst <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853188&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853188</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032327</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032327</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Astrocytoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1157043006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1157043006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004114</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009592</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009592</a>]</span><br /> -
|
|
Glioblastoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1163375002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1163375002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/393563007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">393563007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017636</a>, <a href="https://bioportal.bioontology.org/search?q=C1621958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1621958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012174" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012174</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012174" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012174</a>]</span><br /> -
|
|
Medulloblastoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156923005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156923005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/443333004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">443333004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025149</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002885" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002885</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002885" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002885</a>]</span><br /> -
|
|
Wilm's tumor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25081006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25081006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002667</a>]</span><br /> -
|
|
Small bowel adenocarcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/424440001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">424440001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0278803&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0278803</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040274</a>]</span><br /> -
|
|
Colonic adenocarcinoma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338106&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338106</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040276</a>]</span><br /> -
|
|
Leukemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93143009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93143009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162768007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162768007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C95" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C95</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C95.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C95.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C95.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C95.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/208.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">208.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">208</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023418&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023418</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001909</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001909</a>]</span><br /> -
|
|
Lymphoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1163043007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1163043007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/188676008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">188676008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/118600007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">118600007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C85.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C85.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024299</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002665</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002665</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset of hematologic or CNS tumors in the first-second decade of life<br /> -
|
|
Onset of gastrointestinal tumors typically occurs in second decade of life<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the DNA mismatch repair protein MLH1 gene (MLH1, <a href="/entry/120436#0001">120436.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Mismatch repair cancer syndrome
|
|
- <a href="/phenotypicSeries/PS276300">PS276300</a>
|
|
- 4 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/239?start=-3&limit=10&highlight=239"> 2p21-p16.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619096"> Mismatch repair cancer syndrome 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619096"> 619096 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609309"> MSH2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609309"> 609309 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/245?start=-3&limit=10&highlight=245"> 2p16.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619097"> Mismatch repair cancer syndrome 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619097"> 619097 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600678"> MSH6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600678"> 600678 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/163?start=-3&limit=10&highlight=163"> 3p22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276300"> Mismatch repair cancer syndrome 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276300"> 276300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120436"> MLH1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120436"> 120436 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/51?start=-3&limit=10&highlight=51"> 7p22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619101"> Mismatch repair cancer syndrome 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619101"> 619101 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600259"> PMS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600259"> 600259 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimTextFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that mismatch repair cancer syndrome-1 (MMRCS1) is caused by homozygous or compound heterozygous mutation in the mismatch repair (MMR) gene MLH1 (<a href="/entry/120436">120436</a>) on chromosome 3p22.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>Mismatch repair cancer syndrome (MMRCS) is a rare autosomal recessive childhood cancer predisposition syndrome with 4 main tumor types: hematologic malignancies, brain/central nervous system tumors, colorectal tumors and multiple intestinal polyps, and other malignancies including embryonic tumors and rhabdomyosarcoma. Many patients show signs reminiscent of neurofibromatosis type I (NF1; <a href="/entry/162200">162200</a>), particularly multiple cafe-au-lait macules (summary by <a href="#1" class="mim-tip-reference" title="Baas, A. F., Gabbett, M., Rimac, M., Kansikas, M., Raphael, M., Nievelstein, R. A. J., Nicholls, W., Offerhaus, J., Bodmer, D., Wernstedt, A., Krabichler, B., Strasser, U., Nystrom, M., Zschocke, J., Robertson, S. P., van Haelst, M. M., Wimmer, K. <strong>Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.</strong> Europ. J. Hum. Genet. 21: 55-61, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22692065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22692065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22692065[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22692065">Baas et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22692065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Wimmer, K., Etzler, J. <strong>Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?</strong> Hum. Genet. 124: 105-122, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18709565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18709565</a>] [<a href="https://doi.org/10.1007/s00439-008-0542-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18709565">Wimmer and Etzler (2008)</a> provided a review of the mismatch cancer repair syndrome and suggested that the prevalence may be underestimated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18709565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Mismatch Repair Cancer Syndrome</em></strong></p><p>
|
|
MMRCS2 (<a href="/entry/619096">619096</a>) is caused by mutation in the MSH2 gene (<a href="/entry/609309">609309</a>) on chromosome 2p21-p16. MMRCS3 (<a href="/entry/619097">619097</a>) is caused by mutation in the MSH6 gene (<a href="/entry/600678">600678</a>) on chromosome 2p16. MMRCS4 (<a href="/entry/619101">619101</a>) is caused by mutation in the PMS2 gene (<a href="/entry/600259">600259</a>) on chromosome 7p22.</p><p>Patients with familial adenomatous polyposis (FAP; <a href="/entry/175100">175100</a>), an autosomal dominant disorder that results from heterozygous mutations in the APC gene, may also develop brain tumors or extracolonic malignancies, resulting in a similar clinical phenotype.</p><p>Heterozygous mutations in the MMR genes result in hereditary nonpolyposis colorectal cancer (see, e.g., HNPCC1, <a href="/entry/120435">120435</a>).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="clinicalFeatures" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#27" class="mim-tip-reference" title="Turcot, J., Despres, J.-P., St. Pierre, F. <strong>Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases.</strong> Dis. Colon Rectum 2: 465-468, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13839882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13839882</a>] [<a href="https://doi.org/10.1007/BF02616938" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13839882">Turcot et al. (1959)</a> reported a brother and sister with malignant tumors of the central nervous system associated with colonic polyps. The brother had a medulloblastoma of the spinal cord and colorectal adenocarcinomas; the sister had glioblastoma multiforme and a pituitary adenoma. The parents were third cousins, indicating autosomal recessive inheritance (<a href="#28" class="mim-tip-reference" title="Turcot, J. <strong>Personal Communication.</strong> Quebec City, Quebec, Canada 1961."None>Turcot, 1961</a>). Turcot, a French Canadian, pronounced his name with a silent terminal 't'. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13839882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Yaffee, H. S. <strong>Gastric polyposis and soft tissue tumors: a variant of Gardner's syndrome.</strong> Arch. Derm. 89: 806-808, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14164962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14164962</a>] [<a href="https://doi.org/10.1001/archderm.1964.01590300034011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14164962">Yaffee (1964)</a> described a patient with Gardner syndrome (see <a href="/entry/175100">175100</a>), a variant of FAP with extracolonic manifestations, whose uncle 'died of Turcot syndrome.' The report suggested that the 2 phenotypes are similar and may be confused. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14164962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Baughman, F. A., Jr., List, C. F., Williams, J. R., Muldoon, J. P., Segarra, J. M., Volkel, J. S. <strong>The glioma-polyposis syndrome.</strong> New Eng. J. Med. 281: 1345-1346, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4311244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4311244</a>] [<a href="https://doi.org/10.1056/NEJM196912112812407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4311244">Baughman et al. (1969)</a> reported a family in which a brother, 2 sisters, and possibly another brother had glioma and colonic polyposis inherited in an autosomal recessive manner. The authors referred to it as 'the glioma-polyposis syndrome.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4311244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Everson, R. B., Fraumeni, J. F., Jr. <strong>Familial glioblastoma with hepatic focal nodular hyperplasia.</strong> Cancer 38: 310-313, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/181130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">181130</a>] [<a href="https://doi.org/10.1002/1097-0142(197607)38:1<310::aid-cncr2820380145>3.0.co;2-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="181130">Everson and Fraumeni (1976)</a> described 2 sibs who died from glioblastoma multiforme associated with focal nodular hyperplasia of the liver and cafe-au-lait spots. One sib had 4 adenomatous sigmoid polyps removed at age 22. No further colonic polyps were found on autopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=181130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Itoh, H., Ohsato, K., Yao, T., Iida, M., Watanabe, H. <strong>Turcot's syndrome and its mode of inheritance.</strong> Gut 20: 414-419, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/223949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">223949</a>] [<a href="https://doi.org/10.1136/gut.20.5.414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="223949">Itoh et al. (1979)</a> described 2 sisters, born of first-cousin parents, with malignant cerebral neoplasms and colonic polyposis. One sister presented at age 19 with multiple colonic polyps for which colectomy was performed. At the age of 22, she presented with a grade 3 astrocytoma of the left frontal lobe, from which she eventually died. She had several cafe-au-lait spots. The younger sister was found at age 17 to have colonic adenomas, including adenocarcinoma in 2 large polyps, and 14 small primary gastric cancers, all of the signet ring cell type. She had total gastrectomy and total colectomy. She had several cafe-au-lait spots and 3 small lipomas. At the age of 21, she was found to have a grade 3 astrocytoma of the right temporal lobe, from which she eventually died. Panoramic radiographs of the jaws and radiologic survey of the skeleton showed no abnormality suggestive of Gardner syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=223949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>From study of their own cases and those in the literature, <a href="#12" class="mim-tip-reference" title="Itoh, H., Ohsato, K., Yao, T., Iida, M., Watanabe, H. <strong>Turcot's syndrome and its mode of inheritance.</strong> Gut 20: 414-419, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/223949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">223949</a>] [<a href="https://doi.org/10.1136/gut.20.5.414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="223949">Itoh et al. (1979)</a> concluded that in the Turcot syndrome polyps are somewhat fewer in number than in FAP, but are generally larger in size. The ratio of polyps over 3 cm in diameter to all polyps was frequently more than 1% in Turcot syndrome, but usually less than 0.2% in FAP. The authors collected reports of 12 families plus several nonfamilial cases of Turcot syndrome. <a href="#5" class="mim-tip-reference" title="Bussey, H. J. R. <strong>Familial Polyposis Coli.</strong> Baltimore: Johns Hopkins Univ. Press (pub.) 1975."None>Bussey (1975)</a> referred to a recessive form of FAP. <a href="#12" class="mim-tip-reference" title="Itoh, H., Ohsato, K., Yao, T., Iida, M., Watanabe, H. <strong>Turcot's syndrome and its mode of inheritance.</strong> Gut 20: 414-419, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/223949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">223949</a>] [<a href="https://doi.org/10.1136/gut.20.5.414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="223949">Itoh et al. (1979)</a> observed cases of this apparent type and found that the polyposis was of the Turcot type in terms of number and size. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=223949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Michels, V. V., Stevens, J. C. <strong>Basal cell carcinoma in a patient with intestinal polyposis.</strong> Clin. Genet. 22: 80-82, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7172481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7172481</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01417.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7172481">Michels and Stevens (1982)</a> reported a 22-year-old female with multiple polyposis of the colon requiring colectomy at age 17, multiple basal cell carcinoma in the scalp first presenting at age 18, pontine glioma presenting at age 19, and a tumor of the left posterior parietal region, either a second primary tumor or metastatic adenocarcinoma of the colon; invasive adenocarcinoma had been found in the colon specimen. She also had multiple pigmented lesions on the back and arms. A sister died of cerebral glioma at age 8. The authors postulated autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7172481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Li, F. P., Little, J. B., Bech-Hansen, N. T., Paterson, M. C., Arlett, C., Garnick, M. B., Mayer, R. J. <strong>Acute leukemia after radiotherapy in a patient with Turcot's syndrome: impaired colony formation in skin fibroblast cultures after irradiation.</strong> Am. J. Med. 74: 343-348, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6572034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6572034</a>] [<a href="https://doi.org/10.1016/0002-9343(83)90643-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6572034">Li et al. (1983)</a> reported a woman who developed colonic polyposis and carcinoma at the age of 31 years, and astrocytoma at age 37. Her brother and sister had died of astrocytoma at ages 18 and 33 years, respectively. Progressive neutropenia developed 3 months after radiotherapy for the brain tumor and acute myelomonocytic leukemia developed 19 months after treatment, suggesting radiosensitivity. Studies of cultured skin fibroblasts in 3 laboratories showed slight but significant radiosensitivity in an early passage subculture (after 6 to 10 doublings), but no abnormality in later subculture (after 21 to 29 doublings). Selective in vitro loss of radiosensitive cells may have accounted for the normality of later subcultures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6572034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review of reported cases of Turcot syndrome, <a href="#29" class="mim-tip-reference" title="Van Meir, E. G. <strong>'Turcot's syndrome': phenotype of brain tumors, survival and mode of inheritance. (Letter)</strong> Int. J. Cancer 75: 162-164, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9426707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9426707</a>] [<a href="https://doi.org/10.1002/(sici)1097-0215(19980105)75:1<162::aid-ijc26>3.0.co;2-h" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9426707">Van Meir (1998)</a> found that non-FAP patients with glioblastoma had onset before age 26 years and average survival of 27 months, which is longer than that for sporadic glioblastoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9426707" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Ricciardone, M. D., Ozcelik, T., Cevher, B., Ozdag, H., Tuncer, M., Gurgey, A., Uzunalimoglu, O., Cetinkaya, H., Tanyeli, A., Erken, E., Ozturk, M. <strong>Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.</strong> Cancer Res. 59: 290-293, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9927033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9927033</a>]" pmid="9927033">Ricciardone et al. (1999)</a> reported 3 Turkish sibs who developed hematologic malignancy at a very early age, 2 of whom displayed signs of NF1. All 3 children were diagnosed with a hematological malignancy by the age of 3 years (leukemia in 2 and non-Hodgkin lymphoma in 1). Two of the children had more than 10 cafe-au-lait spots, and 1 child had 2 fibromatous skin tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9927033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Hamilton, S. R., Liu, B., Parsons, R. E., Papadopoulos, N., Jen, J., Powell, S. M., Krush, A. J., Berk, T., Cohen, Z., Tetu, B., Burger, P. C., Wood, P. A., Taqi, F., Booker, S. V., Petersen, G. M., Offerhaus, G. J. A., Tersmette, A. C., Giardiello, F. M., Vogelstein, B., Kinzler, K. W. <strong>The molecular basis of Turcot's syndrome.</strong> New Eng. J. Med. 332: 839-847, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7661930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7661930</a>] [<a href="https://doi.org/10.1056/NEJM199503303321302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7661930">Hamilton et al. (1995)</a> analyzed 14 families with the clinical designation of 'Turcot syndrome' identified in 2 registries, and the family originally described by <a href="#27" class="mim-tip-reference" title="Turcot, J., Despres, J.-P., St. Pierre, F. <strong>Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases.</strong> Dis. Colon Rectum 2: 465-468, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13839882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13839882</a>] [<a href="https://doi.org/10.1007/BF02616938" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13839882">Turcot et al. (1959)</a>. Studies on autopsy slides of the glioblastoma and rectal adenoma from 1 of the cases reported by <a href="#27" class="mim-tip-reference" title="Turcot, J., Despres, J.-P., St. Pierre, F. <strong>Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases.</strong> Dis. Colon Rectum 2: 465-468, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13839882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13839882</a>] [<a href="https://doi.org/10.1007/BF02616938" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13839882">Turcot et al. (1959)</a> showed DNA replication errors characteristic of hereditary nonpolyposis colorectal cancer (HNPCC; see <a href="/entry/120435">120435</a>). Tissue samples from patients with mismatch repair (MMR) mutations showed DNA replication errors. Ten of 12 families classified as having polyposis were found to have heterozygous mutations in the APC gene (<a href="/entry/611731">611731</a>), indicating that they had familial adenomatous polyposis (FAP; see <a href="/entry/175100">175100</a>) with the extracolonic manifestation of a brain tumor, mainly medulloblastoma (in 79%). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7661930+13839882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Baas, A. F., Gabbett, M., Rimac, M., Kansikas, M., Raphael, M., Nievelstein, R. A. J., Nicholls, W., Offerhaus, J., Bodmer, D., Wernstedt, A., Krabichler, B., Strasser, U., Nystrom, M., Zschocke, J., Robertson, S. P., van Haelst, M. M., Wimmer, K. <strong>Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.</strong> Europ. J. Hum. Genet. 21: 55-61, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22692065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22692065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22692065[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22692065">Baas et al. (2013)</a> reported 3 unrelated children with MMRCS and structural brain anomalies. Patient 2, with MMRCS1, was a boy, born of Polynesian parents, who first presented with a glioblastoma multiforme and later developed a T-cell lymphoblastic lymphoma. He died of sepsis at the end of treatment. Brain imaging showed near complete agenesis of the corpus callosum, interhemispheric and intracerebral cysts, and right subcortical and periventricular heterotopia. He was also noted to have multiple cafe-au-lait spots. Early developmental milestones were delayed. The maternal family history was positive for colorectal cancer. See MMRCS4 (<a href="/entry/619101">619101</a>) for discussion of the other 2 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22692065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bakry, D., Aronson, M., Durno, C., Rimawi, H., Farah, R., Alharbi, Q. K., Alharbi, M., Shamvil, A., Ben-Shachar, S., Mistry, M., Constantini, S., Dvir, R., and 11 others. <strong>Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.</strong> Europ. J. Cancer 50: 987-996, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24440087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24440087</a>] [<a href="https://doi.org/10.1016/j.ejca.2013.12.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24440087">Bakry et al. (2014)</a> established an international childhood constitutional mismatch repair deficiency (CMMRD) consortium and collected comprehensive clinical and genetic data from 14 families. Overall, 22 (96%) of 23 children with MMRCS developed 40 different tumors. Brain tumors were the most common cancers reported (48%), followed by gastrointestinal tumors (32%) and hematologic malignancies (15%). Among the CNS neoplasms, the most prevalent type was high grade gliomas (74%), followed by medulloblastoma/PNET (10%) and low grade gliomas (16%). All children with MMRCS had cafe-au-lait spots. Other cutaneous manifestations included hypopigmentation and axillary freckling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24440087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="diagnosis" class="mim-anchor"></a>
|
|
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDiagnosisToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Diagnosis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDiagnosisFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#32" class="mim-tip-reference" title="Wimmer, K., Kratz, C. P., Vasen, H. F. A., Caron, O., Colas, C., Entz-Werle, N., Gerdes, A.-M., Goldberg, Y., Ilencikova, D., Muleris, M., Duval, A., Lavoine, N., Ruiz-Ponte, C., Slavc, I., Burkhardt, B., Brugieres, L. <strong>Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'Care for CMMRD' (C4CMMRD).</strong> J. Med. Genet. 51: 355-365, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24737826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24737826</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24737826">Wimmer et al. (2014)</a> presented a 3-point scoring system for the suspected diagnosis of MMRCS in a pediatric or young adult cancer patient based on the type of tumor and additional features, such as abnormal skin pigmentation, brain malformations, secondary childhood tumors, and family history. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24737826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bakry, D., Aronson, M., Durno, C., Rimawi, H., Farah, R., Alharbi, Q. K., Alharbi, M., Shamvil, A., Ben-Shachar, S., Mistry, M., Constantini, S., Dvir, R., and 11 others. <strong>Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.</strong> Europ. J. Cancer 50: 987-996, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24440087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24440087</a>] [<a href="https://doi.org/10.1016/j.ejca.2013.12.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24440087">Bakry et al. (2014)</a> performed tumor immunohistochemistry (IHC) for the 4 mismatch repair proteins (MLH1, <a href="/entry/120436">120436</a>; PMS2, <a href="/entry/600259">600259</a>; MSH6, <a href="/entry/600678">600678</a>; MSH2, <a href="/entry/609309">609309</a>) on 26 available tumors and found loss of the corresponding MMR protein in all 17 tumors from germline MMRCS patients. Additionally, screening of intratumoral normal tissue by IHC stained negative, which correlated with genetic confirmation of MMRCS. <a href="#2" class="mim-tip-reference" title="Bakry, D., Aronson, M., Durno, C., Rimawi, H., Farah, R., Alharbi, Q. K., Alharbi, M., Shamvil, A., Ben-Shachar, S., Mistry, M., Constantini, S., Dvir, R., and 11 others. <strong>Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.</strong> Europ. J. Cancer 50: 987-996, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24440087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24440087</a>] [<a href="https://doi.org/10.1016/j.ejca.2013.12.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24440087">Bakry et al. (2014)</a> concluded that IHC was 100% sensitive and specific in diagnosing mismatch repair deficiency of the corresponding gene. In contrast, MSI on 28 tumors and paired normal tissues and was neither sensitive nor specific as a diagnostic tool compared to IHC (p less than 0.0001). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24440087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bakry, D., Aronson, M., Durno, C., Rimawi, H., Farah, R., Alharbi, Q. K., Alharbi, M., Shamvil, A., Ben-Shachar, S., Mistry, M., Constantini, S., Dvir, R., and 11 others. <strong>Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.</strong> Europ. J. Cancer 50: 987-996, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24440087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24440087</a>] [<a href="https://doi.org/10.1016/j.ejca.2013.12.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24440087">Bakry et al. (2014)</a> suggested the following approach for the diagnosis of individuals and families with suspected MMRCS. In a child less than 18 years, with either (1) cafe-au-lait spots and a history of family consanguinity, or (2) cafe-au-lait spots and a family member with MMRCS related tumors, they recommended IHC staining of tumor or normal tissue for the 4 MMR proteins. Negative staining should prompt genetic testing to initiate surveillance protocol and provide counseling to family members. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24440087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="inheritance" class="mim-anchor"></a>
|
|
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>MMRCS is transmitted in an autosomal recessive pattern of inheritance (summary by <a href="#32" class="mim-tip-reference" title="Wimmer, K., Kratz, C. P., Vasen, H. F. A., Caron, O., Colas, C., Entz-Werle, N., Gerdes, A.-M., Goldberg, Y., Ilencikova, D., Muleris, M., Duval, A., Lavoine, N., Ruiz-Ponte, C., Slavc, I., Burkhardt, B., Brugieres, L. <strong>Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'Care for CMMRD' (C4CMMRD).</strong> J. Med. Genet. 51: 355-365, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24737826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24737826</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24737826">Wimmer et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24737826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an international childhood MMRCS consortium study of 14 families, <a href="#2" class="mim-tip-reference" title="Bakry, D., Aronson, M., Durno, C., Rimawi, H., Farah, R., Alharbi, Q. K., Alharbi, M., Shamvil, A., Ben-Shachar, S., Mistry, M., Constantini, S., Dvir, R., and 11 others. <strong>Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.</strong> Europ. J. Cancer 50: 987-996, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24440087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24440087</a>] [<a href="https://doi.org/10.1016/j.ejca.2013.12.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24440087">Bakry et al. (2014)</a> found that the penetrance of cancers was exceptionally high. Upon referral to the consortium, 4 of 23 MMRCS patients were unaffected; however, during the study period, 3 of them were diagnosed with tumors. The family history of MMRCS children was not typical of Lynch syndrome (<a href="/entry/120435">120435</a>) as few cancers were reported in adult family members. Lynch-related tumors in adults were only observed in 2 of 14 families, whereas MMRCS-related tumors were seen in all families (p = 0.0007). Of the 28 parents in the study, only 1, a mother, had a history of cancer. The mother had died of an unspecified brain tumor at age 25 but based on the family history of multiple consanguineous generations, she likely had MMRCS as well. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24440087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="clinicalManagement" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalManagementFold" id="mimClinicalManagementToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimClinicalManagementToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Clinical Management</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimClinicalManagementFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>In an childhood MMRCS consortium study, <a href="#2" class="mim-tip-reference" title="Bakry, D., Aronson, M., Durno, C., Rimawi, H., Farah, R., Alharbi, Q. K., Alharbi, M., Shamvil, A., Ben-Shachar, S., Mistry, M., Constantini, S., Dvir, R., and 11 others. <strong>Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.</strong> Europ. J. Cancer 50: 987-996, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24440087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24440087</a>] [<a href="https://doi.org/10.1016/j.ejca.2013.12.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24440087">Bakry et al. (2014)</a> used a surveillance protocol for MMCRS previously reported by <a href="#8" class="mim-tip-reference" title="Durno, C. A., Aronson, M., Tabori, U., Malkin, D., Gallinger, S., Chan, H. S. <strong>Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred.</strong> Pediat. Blood Cancer 59, 652-656, 2012."None>Durno et al. (2012)</a>. The protocol includes a semiannual brain MRI, annual GI endoscopy, and blood work including complete blood count, ESR, and LDH every 4 months. In total, 39 asymptomatic lesions were detected including 2 malignant gliomas, 2 gastrointestinal carcinomas, and 6 cases of gastrointestinal polyposis. All tumors were amenable to complete resection. At a mean follow-up of 61 months, all patients enrolled in the surveillance protocol were alive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24440087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="mapping" class="mim-anchor"></a>
|
|
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#25" class="mim-tip-reference" title="Tops, C. M. J., Vasen, H. F. A., van Berge Henegouwen, G., Simoons, P. P., van de Klift, H. M., van Leeuwen, I. S. J., Breukel, C., Fodde, R., den Hartog Jager, F. C. A., Nagengast, F. M., Griffioen, G., Meera Khan, P. <strong>Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis.</strong> Am. J. Med. Genet. 43: 888-893, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1322639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1322639</a>] [<a href="https://doi.org/10.1002/ajmg.1320430528" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1322639">Tops et al. (1992)</a> presented evidence that the gene responsible for Turcot syndrome was not allelic to APC: a brother and sister with Turcot syndrome had completely different haplotypes for RFLPs from the 5q21-q22 region; furthermore, an unaffected sister had the same 5q haplotypes as an affected brother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1322639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="nomenclature" class="mim-anchor"></a>
|
|
<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Nomenclature</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>'Turcot syndrome' classically refers to the combination of colorectal polyposis and primary tumors of the central nervous system (<a href="#11" class="mim-tip-reference" title="Hamilton, S. R., Liu, B., Parsons, R. E., Papadopoulos, N., Jen, J., Powell, S. M., Krush, A. J., Berk, T., Cohen, Z., Tetu, B., Burger, P. C., Wood, P. A., Taqi, F., Booker, S. V., Petersen, G. M., Offerhaus, G. J. A., Tersmette, A. C., Giardiello, F. M., Vogelstein, B., Kinzler, K. W. <strong>The molecular basis of Turcot's syndrome.</strong> New Eng. J. Med. 332: 839-847, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7661930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7661930</a>] [<a href="https://doi.org/10.1056/NEJM199503303321302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7661930">Hamilton et al., 1995</a>). <a href="#26" class="mim-tip-reference" title="Trimbath, J. D., Petersen, G. M., Erdman, S. H., Ferre, M., Luce, M. C., Giardiello, F. M. <strong>Cafe-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?</strong> Fam. Cancer 1: 101-105, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14574005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14574005</a>] [<a href="https://doi.org/10.1023/a:1013881832014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14574005">Trimbath et al. (2001)</a> and <a href="#20" class="mim-tip-reference" title="Ostergaard, J. R., Sunde, L., Okkels, H. <strong>Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.</strong> Am. J. Med. Genet. 139A: 96-105, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16283678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16283678</a>] [<a href="https://doi.org/10.1002/ajmg.a.30998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16283678">Ostergaard et al. (2005)</a> noted that the original definition of Turcot syndrome may be too restrictive, and suggested that the full manifestation of biallelic mutations in MMR genes includes the additional findings of early-onset hematologic malignancies and cafe-au-lait spots suggestive of neurofibromatosis type I. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16283678+7661930+14574005" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Several authors have observed 2 main groups of so-called 'Turcot syndrome.' <a href="#13" class="mim-tip-reference" title="Itoh, H., Ohsato, K. <strong>Turcot syndrome and its characteristic colonic manifestations.</strong> Dis. Colon Rectum 28: 399-402, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4006635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4006635</a>] [<a href="https://doi.org/10.1007/BF02560221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4006635">Itoh and Ohsato (1985)</a> noted that the colonic lesions seen in Turcot's original cases were characterized by autosomal recessive inheritance and multiple colonic polyps (up to 100), some of which exceeded 3 cm in diameter; the polyps frequently showed malignant transformation in the second and third decades of life. A distinct group of patients showed autosomal dominant inheritance of multiple small colonic polyps similar to classic familial adenomatous polyposis (FAP; see <a href="/entry/175100">175100</a>); the CNS tumor in these patients appeared to be an additional chance occurrence. Due to the similar phenotypes, FAP patients with brain tumors have sometimes been referred to in the past as having 'Turcot syndrome' (see, e.g., <a href="#16" class="mim-tip-reference" title="Lewis, J. H., Ginsberg, A. L., Toomey, K. E. <strong>Turcot's syndrome: evidence for autosomal dominant inheritance.</strong> Cancer 51: 524-528, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6821830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6821830</a>] [<a href="https://doi.org/10.1002/1097-0142(19830201)51:3<524::aid-cncr2820510326>3.0.co;2-i" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6821830">Lewis et al., 1983</a> and <a href="#15" class="mim-tip-reference" title="Lasser, D. M., DeVivo, D. C., Garvin, J., Wilhelmsen, K. C. <strong>Turcot's syndrome: evidence for linkage to the adenomatous polyposis coli (APC) locus.</strong> Neurology 44: 1083-1086, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8208405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8208405</a>] [<a href="https://doi.org/10.1212/wnl.44.6.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8208405">Lasser et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4006635+8208405+6821830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Mastronardi, L., Ferrante, L., Lunardi, P., Cervoni, L., Fortuna, A. <strong>Association between neuroepithelial tumor and multiple intestinal polyposis (Turcot's syndrome): report of a case and critical analysis of the literature.</strong> Neurosurgery 28: 449-452, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1849239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1849239</a>] [<a href="https://doi.org/10.1097/00006123-199103000-00021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1849239">Mastronardi et al. (1991)</a> and <a href="#7" class="mim-tip-reference" title="Dupuis, M. J. M., Verellen-Dumoulin, C. <strong>Gastrointestinal polyposis and nonpolyposis syndromes. (Letter)</strong> New Eng. J. Med. 332: 1518 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7619129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7619129</a>] [<a href="https://doi.org/10.1056/NEJM199506013322215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7619129">Dupuis and Verellen-Dumoulin (1995)</a> also identified 2 distinct syndromes comprising polyposis and CNS tumors. One shows autosomal recessive inheritance of polyps and gliomas, with CNS tumors as a primary feature; this group includes the original kindred of <a href="#27" class="mim-tip-reference" title="Turcot, J., Despres, J.-P., St. Pierre, F. <strong>Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases.</strong> Dis. Colon Rectum 2: 465-468, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13839882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13839882</a>] [<a href="https://doi.org/10.1007/BF02616938" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13839882">Turcot et al. (1959)</a>. The other group shows autosomal dominant FAP with CNS tumors, usually medulloblastomas, as an extracolonic manifestation. The colonic polyps in Turcot syndrome occur earlier, are less numerous and larger, and undergo malignant transformation earlier compared to those in FAP. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1849239+7619129+13839882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Paraf, F., Jothy, S., Van Meir, E. G. <strong>Brain tumor-polyposis syndrome: two genetic diseases?</strong> J. Clin. Oncol. 15: 2744-2758, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215849</a>] [<a href="https://doi.org/10.1200/JCO.1997.15.7.2744" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215849">Paraf et al. (1997)</a> also proposed that Turcot syndrome, which they referred to as the 'brain tumor-polyposis (BTP) syndrome,' could be classified into 2 distinct entities. Patients with BTP syndrome type 1 have early onset of malignant gliomas and colorectal adenomas without polyposis; these are non-FAP cases. Neoplasms from these patients show DNA replication errors consistent with mutations in DNA mismatch repair genes. In contrast, BTP syndrome type 2 includes patients in FAP kindreds who develop CNS tumors. These patients have germline APC mutations which predispose to brain tumors. Risk analysis showed an increased incidence of medulloblastoma in FAP patients. By contrast, APC mutations were not found in sporadic glioma or medulloblastoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="molecularGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#11" class="mim-tip-reference" title="Hamilton, S. R., Liu, B., Parsons, R. E., Papadopoulos, N., Jen, J., Powell, S. M., Krush, A. J., Berk, T., Cohen, Z., Tetu, B., Burger, P. C., Wood, P. A., Taqi, F., Booker, S. V., Petersen, G. M., Offerhaus, G. J. A., Tersmette, A. C., Giardiello, F. M., Vogelstein, B., Kinzler, K. W. <strong>The molecular basis of Turcot's syndrome.</strong> New Eng. J. Med. 332: 839-847, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7661930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7661930</a>] [<a href="https://doi.org/10.1056/NEJM199503303321302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7661930">Hamilton et al. (1995)</a> studied 14 families with the clinical designation of 'Turcot syndrome' identified in 2 registries, and the family originally described by <a href="#27" class="mim-tip-reference" title="Turcot, J., Despres, J.-P., St. Pierre, F. <strong>Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases.</strong> Dis. Colon Rectum 2: 465-468, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13839882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13839882</a>] [<a href="https://doi.org/10.1007/BF02616938" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13839882">Turcot et al. (1959)</a>. Studies on autopsy slides of the glioblastoma and rectal adenoma from 1 of the cases reported by <a href="#27" class="mim-tip-reference" title="Turcot, J., Despres, J.-P., St. Pierre, F. <strong>Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases.</strong> Dis. Colon Rectum 2: 465-468, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13839882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13839882</a>] [<a href="https://doi.org/10.1007/BF02616938" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13839882">Turcot et al. (1959)</a> showed DNA replication errors characteristic of HNPCC. DNA from Turcot's original subjects was unavailable and, since no affected family members were known to be living, mutation status could not be determined. In family 14, an individual with glioblastoma and colorectal cancer had a mutation in the MLH1 gene (<a href="/entry/120436#0003">120436.0003</a>). Tissue samples from patients with MMR mutations showed DNA replication errors. Ten of 12 families classified as having polyposis were found to have heterozygous mutations in the APC gene, indicating that they had FAP with the extracolonic manifestation of a brain tumor, mainly medulloblastoma (in 79%). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7661930+13839882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Ricciardone, M. D., Ozcelik, T., Cevher, B., Ozdag, H., Tuncer, M., Gurgey, A., Uzunalimoglu, O., Cetinkaya, H., Tanyeli, A., Erken, E., Ozturk, M. <strong>Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.</strong> Cancer Res. 59: 290-293, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9927033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9927033</a>]" pmid="9927033">Ricciardone et al. (1999)</a> reported 3 Turkish sibs who developed hematologic malignancy at a very early age, 2 of whom displayed signs of NF1. All were homozygous for a mutation in the MLH1 gene (<a href="/entry/120436#0010">120436.0010</a>). Hematologic malignancy was diagnosed in all 3 by the age of 3 years. Both parents had colon cancer at an early age. The phenotype in the offspring was consistent with the mismatch repair cancer syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9927033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Defects in the MMR genes are associated with microsatellite instability (MSI) in tumor DNA. One system classifies MSI into type A, defined by smaller allelic shifts, and type B, defined by comparatively larger allelic shifts. Using a 5-mononucleotide marker panel to analyze MSI, <a href="#10" class="mim-tip-reference" title="Giunti, L., Cetica, V., Ricci, U., Giglio, S., Sardi, I., Paglierani, M., Andreucci, E., Sanzo, M., Forni, M., Buccoliero, A. M., Genitori, L., Genuardi, M. <strong>Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.</strong> Europ. J. Hum. Genet. 17: 919-927, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19156169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19156169</a>] [<a href="https://doi.org/10.1038/ejhg.2008.271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19156169">Giunti et al. (2009)</a> found that only 2 of 34 pediatric glioma tumor samples had unstable markers consistent with MSI. Both of these tumors were glioblastoma multiforme, and both patients had a family history of the mismatch repair cancer syndrome. Genetic analysis identified compound heterozygous mutations in the PMS2 gene in 1 patient and a heterozygous mutation in the MLH1 gene in the other; a second MLH1 mutation was not identified in the second patient. Both tumors showed small size shifts in the alleles compared to the constitutional DNA, with differences in the range of 1 to 2 bp. A colorectal tumor from 1 patient's affected sister showed the larger type B MSI. <a href="#10" class="mim-tip-reference" title="Giunti, L., Cetica, V., Ricci, U., Giglio, S., Sardi, I., Paglierani, M., Andreucci, E., Sanzo, M., Forni, M., Buccoliero, A. M., Genitori, L., Genuardi, M. <strong>Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.</strong> Europ. J. Hum. Genet. 17: 919-927, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19156169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19156169</a>] [<a href="https://doi.org/10.1038/ejhg.2008.271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19156169">Giunti et al. (2009)</a> noted that colorectal cancers often have higher degrees of instability compared to gliomas, perhaps because of the higher cell turnover of intestinal cells compared to neurons. The findings suggested that the finding of type A MSI in pediatric gliomas may be an indicator of Turcot syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19156169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Poley, J.-W., Wagner, A., Hoogmans, M. M. C. P., Menko, F. H., Tops, C., Kros, J. M., Reddingius, R. E., Meijers-Heijboer, H., Kuipers, E. J., Dinjens, W. N. M. <strong>Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.</strong> Cancer 109: 2349-2356, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17440981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17440981</a>] [<a href="https://doi.org/10.1002/cncr.22697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17440981">Poley et al. (2007)</a> identified biallelic germline mismatch repair gene defects in 2 of 15 children with more than 1 cancer. In a 4-year-old boy with glioblastoma, nephroblastoma, and cafe-au-lait spots, they identified compound heterozygosity for 2 mutations in the MLH1 gene (<a href="/entry/120436#0027">120436.0027</a>; <a href="/entry/120436#0028">120436.0028</a>). Both his parents, who were each heterozygous for a respective mutation, came from families with HNPCC2 (<a href="/entry/609310">609310</a>). <a href="#22" class="mim-tip-reference" title="Poley, J.-W., Wagner, A., Hoogmans, M. M. C. P., Menko, F. H., Tops, C., Kros, J. M., Reddingius, R. E., Meijers-Heijboer, H., Kuipers, E. J., Dinjens, W. N. M. <strong>Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.</strong> Cancer 109: 2349-2356, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17440981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17440981</a>] [<a href="https://doi.org/10.1002/cncr.22697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17440981">Poley et al. (2007)</a> also studied a patient in whom various cancer and normal tissues lacked staining for MSH6 (<a href="/entry/600678">600678</a>); see MMRCS3 (<a href="/entry/619097">619097</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17440981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a boy (patient 2) with MMRCS1, agenesis of the corpus callosum, and gray matter heterotopia, <a href="#1" class="mim-tip-reference" title="Baas, A. F., Gabbett, M., Rimac, M., Kansikas, M., Raphael, M., Nievelstein, R. A. J., Nicholls, W., Offerhaus, J., Bodmer, D., Wernstedt, A., Krabichler, B., Strasser, U., Nystrom, M., Zschocke, J., Robertson, S. P., van Haelst, M. M., Wimmer, K. <strong>Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.</strong> Europ. J. Hum. Genet. 21: 55-61, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22692065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22692065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22692065[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22692065">Baas et al. (2013)</a> identified a homozygous missense mutation in the MLH1 gene in the patient (L73R; <a href="/entry/120436#0034">120436.0034</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22692065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Modifier Genes</em></strong></p><p>
|
|
<a href="#14" class="mim-tip-reference" title="Kikuchi, T., Rempel, S. A., Rutz, H.-P., de Tribolet, N., Mulligan, L., Cavenee, W. K., Jothy, S., Leduy, L., Van Meir, E. G. <strong>Turcot's syndrome of glioma and polyposis occurs in the absence of germ line mutations of exons 5 to 9 of the p53 gene.</strong> Cancer Res. 53: 957-961, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8439970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8439970</a>]" pmid="8439970">Kikuchi et al. (1993)</a> found no constitutional abnormality of the conserved regions of the TP53 (<a href="/entry/191170">191170</a>) gene (exons 5-9) in 2 patients with the glioma-polyposis syndrome, but did find independent alterations in the TP53 gene in the tumors, suggesting that TP53 may play a role in progression but not in initiation of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8439970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Wang, Q., Montmain, G., Ruano, E., Upadhyaya, M., Dudley, S., Liskay, R. M., Thibodeau, S. N., Puisieux, A. <strong>Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.</strong> Hum. Genet. 112: 117-123, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522551</a>] [<a href="https://doi.org/10.1007/s00439-002-0858-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522551">Wang et al. (2003)</a> demonstrated that somatic mutations of the NF1 gene occur more commonly in MMR-deficient cells. They observed NF1 alterations in 5 of 10 tumor cell lines with microsatellite instability compared to none of 5 MMR-proficient tumor cell lines. Somatic NF1 mutations were also detected in 2 primary tumors exhibiting microsatellite instability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12522551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="seeAlso" class="mim-anchor"></a>
|
|
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<a href="#Bigorgne1983" class="mim-tip-reference" title="Bigorgne, J.-C., Fanello, S., Rohmer, V., Ben Bouali, A., Guy, G., Ronceray, J. <strong>Craniopharyngiome associe a une polypose rectocolique: syndrome de Turcot? (Letter)</strong> Gastroent. Clin. Biol. 7: 1047 only, 1983.">Bigorgne et al. (1983)</a>; <a href="#Chowdhary1985" class="mim-tip-reference" title="Chowdhary, U. M., Boehme, D. H., Al-Jishi, M. <strong>Turcot syndrome (glioma polyposis): case report.</strong> J. Neurosurg. 63: 804-807, 1985.">Chowdhary et al. (1985)</a>; <a href="#Rothman1975" class="mim-tip-reference" title="Rothman, D., Su, C. P., Kendall, A. B. <strong>Dilemma in a case of Turcot's (glioma-polyposis) syndrome: report of a case.</strong> Dis. Colon Rectum 18: 514-515, 1975.">Rothman et al.
|
|
(1975)</a>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Baas2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Baas, A. F., Gabbett, M., Rimac, M., Kansikas, M., Raphael, M., Nievelstein, R. A. J., Nicholls, W., Offerhaus, J., Bodmer, D., Wernstedt, A., Krabichler, B., Strasser, U., Nystrom, M., Zschocke, J., Robertson, S. P., van Haelst, M. M., Wimmer, K.
|
|
<strong>Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.</strong>
|
|
Europ. J. Hum. Genet. 21: 55-61, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22692065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22692065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22692065[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22692065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ejhg.2012.117" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Bakry2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bakry, D., Aronson, M., Durno, C., Rimawi, H., Farah, R., Alharbi, Q. K., Alharbi, M., Shamvil, A., Ben-Shachar, S., Mistry, M., Constantini, S., Dvir, R., and 11 others.
|
|
<strong>Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.</strong>
|
|
Europ. J. Cancer 50: 987-996, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24440087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24440087</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24440087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ejca.2013.12.005" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Baughman1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Baughman, F. A., Jr., List, C. F., Williams, J. R., Muldoon, J. P., Segarra, J. M., Volkel, J. S.
|
|
<strong>The glioma-polyposis syndrome.</strong>
|
|
New Eng. J. Med. 281: 1345-1346, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4311244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4311244</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4311244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM196912112812407" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Bigorgne1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bigorgne, J.-C., Fanello, S., Rohmer, V., Ben Bouali, A., Guy, G., Ronceray, J.
|
|
<strong>Craniopharyngiome associe a une polypose rectocolique: syndrome de Turcot? (Letter)</strong>
|
|
Gastroent. Clin. Biol. 7: 1047 only, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6662328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6662328</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6662328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Bussey1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bussey, H. J. R.
|
|
<strong>Familial Polyposis Coli.</strong>
|
|
Baltimore: Johns Hopkins Univ. Press (pub.) 1975.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Chowdhary1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chowdhary, U. M., Boehme, D. H., Al-Jishi, M.
|
|
<strong>Turcot syndrome (glioma polyposis): case report.</strong>
|
|
J. Neurosurg. 63: 804-807, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4056888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4056888</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4056888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.3171/jns.1985.63.5.0804" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Dupuis1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dupuis, M. J. M., Verellen-Dumoulin, C.
|
|
<strong>Gastrointestinal polyposis and nonpolyposis syndromes. (Letter)</strong>
|
|
New Eng. J. Med. 332: 1518 only, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7619129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7619129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7619129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM199506013322215" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Durno2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Durno, C. A., Aronson, M., Tabori, U., Malkin, D., Gallinger, S., Chan, H. S.
|
|
<strong>Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred.</strong>
|
|
Pediat. Blood Cancer 59, 652-656, 2012.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Everson1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Everson, R. B., Fraumeni, J. F., Jr.
|
|
<strong>Familial glioblastoma with hepatic focal nodular hyperplasia.</strong>
|
|
Cancer 38: 310-313, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/181130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">181130</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=181130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/1097-0142(197607)38:1<310::aid-cncr2820380145>3.0.co;2-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Giunti2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Giunti, L., Cetica, V., Ricci, U., Giglio, S., Sardi, I., Paglierani, M., Andreucci, E., Sanzo, M., Forni, M., Buccoliero, A. M., Genitori, L., Genuardi, M.
|
|
<strong>Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.</strong>
|
|
Europ. J. Hum. Genet. 17: 919-927, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19156169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19156169</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19156169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ejhg.2008.271" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Hamilton1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hamilton, S. R., Liu, B., Parsons, R. E., Papadopoulos, N., Jen, J., Powell, S. M., Krush, A. J., Berk, T., Cohen, Z., Tetu, B., Burger, P. C., Wood, P. A., Taqi, F., Booker, S. V., Petersen, G. M., Offerhaus, G. J. A., Tersmette, A. C., Giardiello, F. M., Vogelstein, B., Kinzler, K. W.
|
|
<strong>The molecular basis of Turcot's syndrome.</strong>
|
|
New Eng. J. Med. 332: 839-847, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7661930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7661930</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7661930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM199503303321302" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Itoh1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Itoh, H., Ohsato, K., Yao, T., Iida, M., Watanabe, H.
|
|
<strong>Turcot's syndrome and its mode of inheritance.</strong>
|
|
Gut 20: 414-419, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/223949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">223949</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=223949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/gut.20.5.414" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Itoh1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Itoh, H., Ohsato, K.
|
|
<strong>Turcot syndrome and its characteristic colonic manifestations.</strong>
|
|
Dis. Colon Rectum 28: 399-402, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4006635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4006635</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4006635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF02560221" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Kikuchi1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kikuchi, T., Rempel, S. A., Rutz, H.-P., de Tribolet, N., Mulligan, L., Cavenee, W. K., Jothy, S., Leduy, L., Van Meir, E. G.
|
|
<strong>Turcot's syndrome of glioma and polyposis occurs in the absence of germ line mutations of exons 5 to 9 of the p53 gene.</strong>
|
|
Cancer Res. 53: 957-961, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8439970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8439970</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8439970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Lasser1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lasser, D. M., DeVivo, D. C., Garvin, J., Wilhelmsen, K. C.
|
|
<strong>Turcot's syndrome: evidence for linkage to the adenomatous polyposis coli (APC) locus.</strong>
|
|
Neurology 44: 1083-1086, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8208405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8208405</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8208405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.44.6.1083" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Lewis1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lewis, J. H., Ginsberg, A. L., Toomey, K. E.
|
|
<strong>Turcot's syndrome: evidence for autosomal dominant inheritance.</strong>
|
|
Cancer 51: 524-528, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6821830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6821830</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6821830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/1097-0142(19830201)51:3<524::aid-cncr2820510326>3.0.co;2-i" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Li1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Li, F. P., Little, J. B., Bech-Hansen, N. T., Paterson, M. C., Arlett, C., Garnick, M. B., Mayer, R. J.
|
|
<strong>Acute leukemia after radiotherapy in a patient with Turcot's syndrome: impaired colony formation in skin fibroblast cultures after irradiation.</strong>
|
|
Am. J. Med. 74: 343-348, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6572034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6572034</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6572034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9343(83)90643-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Mastronardi1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mastronardi, L., Ferrante, L., Lunardi, P., Cervoni, L., Fortuna, A.
|
|
<strong>Association between neuroepithelial tumor and multiple intestinal polyposis (Turcot's syndrome): report of a case and critical analysis of the literature.</strong>
|
|
Neurosurgery 28: 449-452, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1849239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1849239</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1849239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/00006123-199103000-00021" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Michels1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Michels, V. V., Stevens, J. C.
|
|
<strong>Basal cell carcinoma in a patient with intestinal polyposis.</strong>
|
|
Clin. Genet. 22: 80-82, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7172481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7172481</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7172481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01417.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Ostergaard2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ostergaard, J. R., Sunde, L., Okkels, H.
|
|
<strong>Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.</strong>
|
|
Am. J. Med. Genet. 139A: 96-105, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16283678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16283678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16283678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.30998" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Paraf1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Paraf, F., Jothy, S., Van Meir, E. G.
|
|
<strong>Brain tumor-polyposis syndrome: two genetic diseases?</strong>
|
|
J. Clin. Oncol. 15: 2744-2758, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215849</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1200/JCO.1997.15.7.2744" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Poley2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Poley, J.-W., Wagner, A., Hoogmans, M. M. C. P., Menko, F. H., Tops, C., Kros, J. M., Reddingius, R. E., Meijers-Heijboer, H., Kuipers, E. J., Dinjens, W. N. M.
|
|
<strong>Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.</strong>
|
|
Cancer 109: 2349-2356, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17440981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17440981</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17440981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/cncr.22697" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Ricciardone1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ricciardone, M. D., Ozcelik, T., Cevher, B., Ozdag, H., Tuncer, M., Gurgey, A., Uzunalimoglu, O., Cetinkaya, H., Tanyeli, A., Erken, E., Ozturk, M.
|
|
<strong>Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.</strong>
|
|
Cancer Res. 59: 290-293, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9927033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9927033</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9927033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Rothman1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rothman, D., Su, C. P., Kendall, A. B.
|
|
<strong>Dilemma in a case of Turcot's (glioma-polyposis) syndrome: report of a case.</strong>
|
|
Dis. Colon Rectum 18: 514-515, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1236687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1236687</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1236687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF02587222" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Tops1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tops, C. M. J., Vasen, H. F. A., van Berge Henegouwen, G., Simoons, P. P., van de Klift, H. M., van Leeuwen, I. S. J., Breukel, C., Fodde, R., den Hartog Jager, F. C. A., Nagengast, F. M., Griffioen, G., Meera Khan, P.
|
|
<strong>Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis.</strong>
|
|
Am. J. Med. Genet. 43: 888-893, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1322639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1322639</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1322639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320430528" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Trimbath2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Trimbath, J. D., Petersen, G. M., Erdman, S. H., Ferre, M., Luce, M. C., Giardiello, F. M.
|
|
<strong>Cafe-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?</strong>
|
|
Fam. Cancer 1: 101-105, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14574005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14574005</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14574005" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1023/a:1013881832014" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Turcot1959" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Turcot, J., Despres, J.-P., St. Pierre, F.
|
|
<strong>Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases.</strong>
|
|
Dis. Colon Rectum 2: 465-468, 1959.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13839882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13839882</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13839882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF02616938" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Turcot1961" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Turcot, J.
|
|
<strong>Personal Communication.</strong>
|
|
Quebec City, Quebec, Canada 1961.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Van Meir1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Van Meir, E. G.
|
|
<strong>'Turcot's syndrome': phenotype of brain tumors, survival and mode of inheritance. (Letter)</strong>
|
|
Int. J. Cancer 75: 162-164, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9426707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9426707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9426707" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(sici)1097-0215(19980105)75:1<162::aid-ijc26>3.0.co;2-h" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Wang2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wang, Q., Montmain, G., Ruano, E., Upadhyaya, M., Dudley, S., Liskay, R. M., Thibodeau, S. N., Puisieux, A.
|
|
<strong>Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.</strong>
|
|
Hum. Genet. 112: 117-123, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522551</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12522551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00439-002-0858-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Wimmer2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wimmer, K., Etzler, J.
|
|
<strong>Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?</strong>
|
|
Hum. Genet. 124: 105-122, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18709565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18709565</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18709565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00439-008-0542-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Wimmer2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wimmer, K., Kratz, C. P., Vasen, H. F. A., Caron, O., Colas, C., Entz-Werle, N., Gerdes, A.-M., Goldberg, Y., Ilencikova, D., Muleris, M., Duval, A., Lavoine, N., Ruiz-Ponte, C., Slavc, I., Burkhardt, B., Brugieres, L.
|
|
<strong>Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'Care for CMMRD' (C4CMMRD).</strong>
|
|
J. Med. Genet. 51: 355-365, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24737826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24737826</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24737826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmedgenet-2014-102284" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Yaffee1964" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yaffee, H. S.
|
|
<strong>Gastric polyposis and soft tissue tumors: a variant of Gardner's syndrome.</strong>
|
|
Arch. Derm. 89: 806-808, 1964.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14164962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14164962</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14164962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archderm.1964.01590300034011" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="contributors" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="mim-text-font">
|
|
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Kelly A. Przylepa - updated : 05/18/2021
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 6/8/2015<br>Cassandra L. Kniffin - updated : 6/18/2014<br>Ada Hamosh - updated : 4/29/2013<br>Cassandra L. Kniffin - updated : 4/22/2013<br>Cassandra L. Kniffin - updated : 7/19/2010<br>Cassandra L. Kniffin - updated : 9/21/2009<br>Cassandra L. Kniffin - updated : 2/16/2009<br>Cassandra L. Kniffin - updated : 2/4/2008<br>Cassandra L. Kniffin - reorganized : 1/14/2008<br>Victor A. McKusick - updated : 4/27/2004<br>Ada Hamosh - updated : 6/14/1999<br>Victor A. McKusick - updated : 11/10/1998
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="creationDate" class="mim-anchor"></a>
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/4/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 05/19/2021
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 05/18/2021<br>alopez : 02/11/2021<br>carol : 11/25/2020<br>alopez : 11/24/2020<br>alopez : 11/24/2020<br>carol : 02/25/2016<br>carol : 6/10/2015<br>mcolton : 6/9/2015<br>ckniffin : 6/8/2015<br>carol : 6/19/2014<br>ckniffin : 6/18/2014<br>alopez : 4/29/2013<br>ckniffin : 4/22/2013<br>carol : 1/31/2013<br>wwang : 7/20/2010<br>ckniffin : 7/19/2010<br>wwang : 9/25/2009<br>ckniffin : 9/21/2009<br>carol : 2/20/2009<br>ckniffin : 2/16/2009<br>carol : 2/6/2009<br>ckniffin : 3/24/2008<br>ckniffin : 3/13/2008<br>wwang : 2/19/2008<br>ckniffin : 2/4/2008<br>carol : 1/14/2008<br>ckniffin : 1/7/2008<br>carol : 9/6/2007<br>mgross : 4/14/2005<br>alopez : 4/29/2004<br>terry : 4/27/2004<br>carol : 11/13/2001<br>carol : 6/28/1999<br>terry : 6/14/1999<br>carol : 1/22/1999<br>terry : 11/10/1998<br>alopez : 7/31/1997<br>terry : 6/16/1995<br>mark : 6/8/1995<br>warfield : 4/20/1994<br>pfoster : 4/1/1994<br>mimadm : 3/12/1994<br>carol : 4/28/1993
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="container visible-print-block">
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
<div class="col-md-8 col-md-offset-1">
|
|
|
|
<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>#</strong> 276300
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
MISMATCH REPAIR CANCER SYNDROME 1; MMRCS1
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME; CMMRDS<br />
|
|
MISMATCH REPAIR DEFICIENCY<br />
|
|
MMR DEFICIENCY<br />
|
|
CHILDHOOD CANCER SYNDROME<br />
|
|
BRAIN TUMOR-POLYPOSIS SYNDROME 1; BTPS1<br />
|
|
BTP1 SYNDROME<br />
|
|
TURCOT SYNDROME
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 61665008;
|
|
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 252202;
|
|
|
|
|
|
<strong>DO:</strong> 0112182;
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
3p22.2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Mismatch repair cancer syndrome 1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
276300
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MLH1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
120436
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that mismatch repair cancer syndrome-1 (MMRCS1) is caused by homozygous or compound heterozygous mutation in the mismatch repair (MMR) gene MLH1 (120436) on chromosome 3p22.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Mismatch repair cancer syndrome (MMRCS) is a rare autosomal recessive childhood cancer predisposition syndrome with 4 main tumor types: hematologic malignancies, brain/central nervous system tumors, colorectal tumors and multiple intestinal polyps, and other malignancies including embryonic tumors and rhabdomyosarcoma. Many patients show signs reminiscent of neurofibromatosis type I (NF1; 162200), particularly multiple cafe-au-lait macules (summary by Baas et al., 2013). </p><p>Wimmer and Etzler (2008) provided a review of the mismatch cancer repair syndrome and suggested that the prevalence may be underestimated. </p><p><strong><em>Genetic Heterogeneity of Mismatch Repair Cancer Syndrome</em></strong></p><p>
|
|
MMRCS2 (619096) is caused by mutation in the MSH2 gene (609309) on chromosome 2p21-p16. MMRCS3 (619097) is caused by mutation in the MSH6 gene (600678) on chromosome 2p16. MMRCS4 (619101) is caused by mutation in the PMS2 gene (600259) on chromosome 7p22.</p><p>Patients with familial adenomatous polyposis (FAP; 175100), an autosomal dominant disorder that results from heterozygous mutations in the APC gene, may also develop brain tumors or extracolonic malignancies, resulting in a similar clinical phenotype.</p><p>Heterozygous mutations in the MMR genes result in hereditary nonpolyposis colorectal cancer (see, e.g., HNPCC1, 120435).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Turcot et al. (1959) reported a brother and sister with malignant tumors of the central nervous system associated with colonic polyps. The brother had a medulloblastoma of the spinal cord and colorectal adenocarcinomas; the sister had glioblastoma multiforme and a pituitary adenoma. The parents were third cousins, indicating autosomal recessive inheritance (Turcot, 1961). Turcot, a French Canadian, pronounced his name with a silent terminal 't'. </p><p>Yaffee (1964) described a patient with Gardner syndrome (see 175100), a variant of FAP with extracolonic manifestations, whose uncle 'died of Turcot syndrome.' The report suggested that the 2 phenotypes are similar and may be confused. </p><p>Baughman et al. (1969) reported a family in which a brother, 2 sisters, and possibly another brother had glioma and colonic polyposis inherited in an autosomal recessive manner. The authors referred to it as 'the glioma-polyposis syndrome.' </p><p>Everson and Fraumeni (1976) described 2 sibs who died from glioblastoma multiforme associated with focal nodular hyperplasia of the liver and cafe-au-lait spots. One sib had 4 adenomatous sigmoid polyps removed at age 22. No further colonic polyps were found on autopsy. </p><p>Itoh et al. (1979) described 2 sisters, born of first-cousin parents, with malignant cerebral neoplasms and colonic polyposis. One sister presented at age 19 with multiple colonic polyps for which colectomy was performed. At the age of 22, she presented with a grade 3 astrocytoma of the left frontal lobe, from which she eventually died. She had several cafe-au-lait spots. The younger sister was found at age 17 to have colonic adenomas, including adenocarcinoma in 2 large polyps, and 14 small primary gastric cancers, all of the signet ring cell type. She had total gastrectomy and total colectomy. She had several cafe-au-lait spots and 3 small lipomas. At the age of 21, she was found to have a grade 3 astrocytoma of the right temporal lobe, from which she eventually died. Panoramic radiographs of the jaws and radiologic survey of the skeleton showed no abnormality suggestive of Gardner syndrome. </p><p>From study of their own cases and those in the literature, Itoh et al. (1979) concluded that in the Turcot syndrome polyps are somewhat fewer in number than in FAP, but are generally larger in size. The ratio of polyps over 3 cm in diameter to all polyps was frequently more than 1% in Turcot syndrome, but usually less than 0.2% in FAP. The authors collected reports of 12 families plus several nonfamilial cases of Turcot syndrome. Bussey (1975) referred to a recessive form of FAP. Itoh et al. (1979) observed cases of this apparent type and found that the polyposis was of the Turcot type in terms of number and size. </p><p>Michels and Stevens (1982) reported a 22-year-old female with multiple polyposis of the colon requiring colectomy at age 17, multiple basal cell carcinoma in the scalp first presenting at age 18, pontine glioma presenting at age 19, and a tumor of the left posterior parietal region, either a second primary tumor or metastatic adenocarcinoma of the colon; invasive adenocarcinoma had been found in the colon specimen. She also had multiple pigmented lesions on the back and arms. A sister died of cerebral glioma at age 8. The authors postulated autosomal recessive inheritance. </p><p>Li et al. (1983) reported a woman who developed colonic polyposis and carcinoma at the age of 31 years, and astrocytoma at age 37. Her brother and sister had died of astrocytoma at ages 18 and 33 years, respectively. Progressive neutropenia developed 3 months after radiotherapy for the brain tumor and acute myelomonocytic leukemia developed 19 months after treatment, suggesting radiosensitivity. Studies of cultured skin fibroblasts in 3 laboratories showed slight but significant radiosensitivity in an early passage subculture (after 6 to 10 doublings), but no abnormality in later subculture (after 21 to 29 doublings). Selective in vitro loss of radiosensitive cells may have accounted for the normality of later subcultures. </p><p>In a review of reported cases of Turcot syndrome, Van Meir (1998) found that non-FAP patients with glioblastoma had onset before age 26 years and average survival of 27 months, which is longer than that for sporadic glioblastoma. </p><p>Ricciardone et al. (1999) reported 3 Turkish sibs who developed hematologic malignancy at a very early age, 2 of whom displayed signs of NF1. All 3 children were diagnosed with a hematological malignancy by the age of 3 years (leukemia in 2 and non-Hodgkin lymphoma in 1). Two of the children had more than 10 cafe-au-lait spots, and 1 child had 2 fibromatous skin tumors. </p><p>Hamilton et al. (1995) analyzed 14 families with the clinical designation of 'Turcot syndrome' identified in 2 registries, and the family originally described by Turcot et al. (1959). Studies on autopsy slides of the glioblastoma and rectal adenoma from 1 of the cases reported by Turcot et al. (1959) showed DNA replication errors characteristic of hereditary nonpolyposis colorectal cancer (HNPCC; see 120435). Tissue samples from patients with mismatch repair (MMR) mutations showed DNA replication errors. Ten of 12 families classified as having polyposis were found to have heterozygous mutations in the APC gene (611731), indicating that they had familial adenomatous polyposis (FAP; see 175100) with the extracolonic manifestation of a brain tumor, mainly medulloblastoma (in 79%). </p><p>Baas et al. (2013) reported 3 unrelated children with MMRCS and structural brain anomalies. Patient 2, with MMRCS1, was a boy, born of Polynesian parents, who first presented with a glioblastoma multiforme and later developed a T-cell lymphoblastic lymphoma. He died of sepsis at the end of treatment. Brain imaging showed near complete agenesis of the corpus callosum, interhemispheric and intracerebral cysts, and right subcortical and periventricular heterotopia. He was also noted to have multiple cafe-au-lait spots. Early developmental milestones were delayed. The maternal family history was positive for colorectal cancer. See MMRCS4 (619101) for discussion of the other 2 patients. </p><p>Bakry et al. (2014) established an international childhood constitutional mismatch repair deficiency (CMMRD) consortium and collected comprehensive clinical and genetic data from 14 families. Overall, 22 (96%) of 23 children with MMRCS developed 40 different tumors. Brain tumors were the most common cancers reported (48%), followed by gastrointestinal tumors (32%) and hematologic malignancies (15%). Among the CNS neoplasms, the most prevalent type was high grade gliomas (74%), followed by medulloblastoma/PNET (10%) and low grade gliomas (16%). All children with MMRCS had cafe-au-lait spots. Other cutaneous manifestations included hypopigmentation and axillary freckling. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Diagnosis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Wimmer et al. (2014) presented a 3-point scoring system for the suspected diagnosis of MMRCS in a pediatric or young adult cancer patient based on the type of tumor and additional features, such as abnormal skin pigmentation, brain malformations, secondary childhood tumors, and family history. </p><p>Bakry et al. (2014) performed tumor immunohistochemistry (IHC) for the 4 mismatch repair proteins (MLH1, 120436; PMS2, 600259; MSH6, 600678; MSH2, 609309) on 26 available tumors and found loss of the corresponding MMR protein in all 17 tumors from germline MMRCS patients. Additionally, screening of intratumoral normal tissue by IHC stained negative, which correlated with genetic confirmation of MMRCS. Bakry et al. (2014) concluded that IHC was 100% sensitive and specific in diagnosing mismatch repair deficiency of the corresponding gene. In contrast, MSI on 28 tumors and paired normal tissues and was neither sensitive nor specific as a diagnostic tool compared to IHC (p less than 0.0001). </p><p>Bakry et al. (2014) suggested the following approach for the diagnosis of individuals and families with suspected MMRCS. In a child less than 18 years, with either (1) cafe-au-lait spots and a history of family consanguinity, or (2) cafe-au-lait spots and a family member with MMRCS related tumors, they recommended IHC staining of tumor or normal tissue for the 4 MMR proteins. Negative staining should prompt genetic testing to initiate surveillance protocol and provide counseling to family members. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>MMRCS is transmitted in an autosomal recessive pattern of inheritance (summary by Wimmer et al., 2014). </p><p>In an international childhood MMRCS consortium study of 14 families, Bakry et al. (2014) found that the penetrance of cancers was exceptionally high. Upon referral to the consortium, 4 of 23 MMRCS patients were unaffected; however, during the study period, 3 of them were diagnosed with tumors. The family history of MMRCS children was not typical of Lynch syndrome (120435) as few cancers were reported in adult family members. Lynch-related tumors in adults were only observed in 2 of 14 families, whereas MMRCS-related tumors were seen in all families (p = 0.0007). Of the 28 parents in the study, only 1, a mother, had a history of cancer. The mother had died of an unspecified brain tumor at age 25 but based on the family history of multiple consanguineous generations, she likely had MMRCS as well. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Management</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In an childhood MMRCS consortium study, Bakry et al. (2014) used a surveillance protocol for MMCRS previously reported by Durno et al. (2012). The protocol includes a semiannual brain MRI, annual GI endoscopy, and blood work including complete blood count, ESR, and LDH every 4 months. In total, 39 asymptomatic lesions were detected including 2 malignant gliomas, 2 gastrointestinal carcinomas, and 6 cases of gastrointestinal polyposis. All tumors were amenable to complete resection. At a mean follow-up of 61 months, all patients enrolled in the surveillance protocol were alive. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Tops et al. (1992) presented evidence that the gene responsible for Turcot syndrome was not allelic to APC: a brother and sister with Turcot syndrome had completely different haplotypes for RFLPs from the 5q21-q22 region; furthermore, an unaffected sister had the same 5q haplotypes as an affected brother. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Nomenclature</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>'Turcot syndrome' classically refers to the combination of colorectal polyposis and primary tumors of the central nervous system (Hamilton et al., 1995). Trimbath et al. (2001) and Ostergaard et al. (2005) noted that the original definition of Turcot syndrome may be too restrictive, and suggested that the full manifestation of biallelic mutations in MMR genes includes the additional findings of early-onset hematologic malignancies and cafe-au-lait spots suggestive of neurofibromatosis type I. </p><p>Several authors have observed 2 main groups of so-called 'Turcot syndrome.' Itoh and Ohsato (1985) noted that the colonic lesions seen in Turcot's original cases were characterized by autosomal recessive inheritance and multiple colonic polyps (up to 100), some of which exceeded 3 cm in diameter; the polyps frequently showed malignant transformation in the second and third decades of life. A distinct group of patients showed autosomal dominant inheritance of multiple small colonic polyps similar to classic familial adenomatous polyposis (FAP; see 175100); the CNS tumor in these patients appeared to be an additional chance occurrence. Due to the similar phenotypes, FAP patients with brain tumors have sometimes been referred to in the past as having 'Turcot syndrome' (see, e.g., Lewis et al., 1983 and Lasser et al., 1994). </p><p>Mastronardi et al. (1991) and Dupuis and Verellen-Dumoulin (1995) also identified 2 distinct syndromes comprising polyposis and CNS tumors. One shows autosomal recessive inheritance of polyps and gliomas, with CNS tumors as a primary feature; this group includes the original kindred of Turcot et al. (1959). The other group shows autosomal dominant FAP with CNS tumors, usually medulloblastomas, as an extracolonic manifestation. The colonic polyps in Turcot syndrome occur earlier, are less numerous and larger, and undergo malignant transformation earlier compared to those in FAP. </p><p>Paraf et al. (1997) also proposed that Turcot syndrome, which they referred to as the 'brain tumor-polyposis (BTP) syndrome,' could be classified into 2 distinct entities. Patients with BTP syndrome type 1 have early onset of malignant gliomas and colorectal adenomas without polyposis; these are non-FAP cases. Neoplasms from these patients show DNA replication errors consistent with mutations in DNA mismatch repair genes. In contrast, BTP syndrome type 2 includes patients in FAP kindreds who develop CNS tumors. These patients have germline APC mutations which predispose to brain tumors. Risk analysis showed an increased incidence of medulloblastoma in FAP patients. By contrast, APC mutations were not found in sporadic glioma or medulloblastoma. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Hamilton et al. (1995) studied 14 families with the clinical designation of 'Turcot syndrome' identified in 2 registries, and the family originally described by Turcot et al. (1959). Studies on autopsy slides of the glioblastoma and rectal adenoma from 1 of the cases reported by Turcot et al. (1959) showed DNA replication errors characteristic of HNPCC. DNA from Turcot's original subjects was unavailable and, since no affected family members were known to be living, mutation status could not be determined. In family 14, an individual with glioblastoma and colorectal cancer had a mutation in the MLH1 gene (120436.0003). Tissue samples from patients with MMR mutations showed DNA replication errors. Ten of 12 families classified as having polyposis were found to have heterozygous mutations in the APC gene, indicating that they had FAP with the extracolonic manifestation of a brain tumor, mainly medulloblastoma (in 79%). </p><p>Ricciardone et al. (1999) reported 3 Turkish sibs who developed hematologic malignancy at a very early age, 2 of whom displayed signs of NF1. All were homozygous for a mutation in the MLH1 gene (120436.0010). Hematologic malignancy was diagnosed in all 3 by the age of 3 years. Both parents had colon cancer at an early age. The phenotype in the offspring was consistent with the mismatch repair cancer syndrome. </p><p>Defects in the MMR genes are associated with microsatellite instability (MSI) in tumor DNA. One system classifies MSI into type A, defined by smaller allelic shifts, and type B, defined by comparatively larger allelic shifts. Using a 5-mononucleotide marker panel to analyze MSI, Giunti et al. (2009) found that only 2 of 34 pediatric glioma tumor samples had unstable markers consistent with MSI. Both of these tumors were glioblastoma multiforme, and both patients had a family history of the mismatch repair cancer syndrome. Genetic analysis identified compound heterozygous mutations in the PMS2 gene in 1 patient and a heterozygous mutation in the MLH1 gene in the other; a second MLH1 mutation was not identified in the second patient. Both tumors showed small size shifts in the alleles compared to the constitutional DNA, with differences in the range of 1 to 2 bp. A colorectal tumor from 1 patient's affected sister showed the larger type B MSI. Giunti et al. (2009) noted that colorectal cancers often have higher degrees of instability compared to gliomas, perhaps because of the higher cell turnover of intestinal cells compared to neurons. The findings suggested that the finding of type A MSI in pediatric gliomas may be an indicator of Turcot syndrome. </p><p>Poley et al. (2007) identified biallelic germline mismatch repair gene defects in 2 of 15 children with more than 1 cancer. In a 4-year-old boy with glioblastoma, nephroblastoma, and cafe-au-lait spots, they identified compound heterozygosity for 2 mutations in the MLH1 gene (120436.0027; 120436.0028). Both his parents, who were each heterozygous for a respective mutation, came from families with HNPCC2 (609310). Poley et al. (2007) also studied a patient in whom various cancer and normal tissues lacked staining for MSH6 (600678); see MMRCS3 (619097). </p><p>In a boy (patient 2) with MMRCS1, agenesis of the corpus callosum, and gray matter heterotopia, Baas et al. (2013) identified a homozygous missense mutation in the MLH1 gene in the patient (L73R; 120436.0034). </p><p><strong><em>Modifier Genes</em></strong></p><p>
|
|
Kikuchi et al. (1993) found no constitutional abnormality of the conserved regions of the TP53 (191170) gene (exons 5-9) in 2 patients with the glioma-polyposis syndrome, but did find independent alterations in the TP53 gene in the tumors, suggesting that TP53 may play a role in progression but not in initiation of the disease. </p><p>Wang et al. (2003) demonstrated that somatic mutations of the NF1 gene occur more commonly in MMR-deficient cells. They observed NF1 alterations in 5 of 10 tumor cell lines with microsatellite instability compared to none of 5 MMR-proficient tumor cell lines. Somatic NF1 mutations were also detected in 2 primary tumors exhibiting microsatellite instability. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Bigorgne et al. (1983); Chowdhary et al. (1985); Rothman et al.
|
|
(1975)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Baas, A. F., Gabbett, M., Rimac, M., Kansikas, M., Raphael, M., Nievelstein, R. A. J., Nicholls, W., Offerhaus, J., Bodmer, D., Wernstedt, A., Krabichler, B., Strasser, U., Nystrom, M., Zschocke, J., Robertson, S. P., van Haelst, M. M., Wimmer, K.
|
|
<strong>Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.</strong>
|
|
Europ. J. Hum. Genet. 21: 55-61, 2013.
|
|
|
|
|
|
[PubMed: 22692065]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2012.117]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bakry, D., Aronson, M., Durno, C., Rimawi, H., Farah, R., Alharbi, Q. K., Alharbi, M., Shamvil, A., Ben-Shachar, S., Mistry, M., Constantini, S., Dvir, R., and 11 others.
|
|
<strong>Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.</strong>
|
|
Europ. J. Cancer 50: 987-996, 2014.
|
|
|
|
|
|
[PubMed: 24440087]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ejca.2013.12.005]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Baughman, F. A., Jr., List, C. F., Williams, J. R., Muldoon, J. P., Segarra, J. M., Volkel, J. S.
|
|
<strong>The glioma-polyposis syndrome.</strong>
|
|
New Eng. J. Med. 281: 1345-1346, 1969.
|
|
|
|
|
|
[PubMed: 4311244]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM196912112812407]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bigorgne, J.-C., Fanello, S., Rohmer, V., Ben Bouali, A., Guy, G., Ronceray, J.
|
|
<strong>Craniopharyngiome associe a une polypose rectocolique: syndrome de Turcot? (Letter)</strong>
|
|
Gastroent. Clin. Biol. 7: 1047 only, 1983.
|
|
|
|
|
|
[PubMed: 6662328]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bussey, H. J. R.
|
|
<strong>Familial Polyposis Coli.</strong>
|
|
Baltimore: Johns Hopkins Univ. Press (pub.) 1975.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chowdhary, U. M., Boehme, D. H., Al-Jishi, M.
|
|
<strong>Turcot syndrome (glioma polyposis): case report.</strong>
|
|
J. Neurosurg. 63: 804-807, 1985.
|
|
|
|
|
|
[PubMed: 4056888]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3171/jns.1985.63.5.0804]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dupuis, M. J. M., Verellen-Dumoulin, C.
|
|
<strong>Gastrointestinal polyposis and nonpolyposis syndromes. (Letter)</strong>
|
|
New Eng. J. Med. 332: 1518 only, 1995.
|
|
|
|
|
|
[PubMed: 7619129]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199506013322215]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Durno, C. A., Aronson, M., Tabori, U., Malkin, D., Gallinger, S., Chan, H. S.
|
|
<strong>Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred.</strong>
|
|
Pediat. Blood Cancer 59, 652-656, 2012.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Everson, R. B., Fraumeni, J. F., Jr.
|
|
<strong>Familial glioblastoma with hepatic focal nodular hyperplasia.</strong>
|
|
Cancer 38: 310-313, 1976.
|
|
|
|
|
|
[PubMed: 181130]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/1097-0142(197607)38:1<310::aid-cncr2820380145>3.0.co;2-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Giunti, L., Cetica, V., Ricci, U., Giglio, S., Sardi, I., Paglierani, M., Andreucci, E., Sanzo, M., Forni, M., Buccoliero, A. M., Genitori, L., Genuardi, M.
|
|
<strong>Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.</strong>
|
|
Europ. J. Hum. Genet. 17: 919-927, 2009.
|
|
|
|
|
|
[PubMed: 19156169]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2008.271]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hamilton, S. R., Liu, B., Parsons, R. E., Papadopoulos, N., Jen, J., Powell, S. M., Krush, A. J., Berk, T., Cohen, Z., Tetu, B., Burger, P. C., Wood, P. A., Taqi, F., Booker, S. V., Petersen, G. M., Offerhaus, G. J. A., Tersmette, A. C., Giardiello, F. M., Vogelstein, B., Kinzler, K. W.
|
|
<strong>The molecular basis of Turcot's syndrome.</strong>
|
|
New Eng. J. Med. 332: 839-847, 1995.
|
|
|
|
|
|
[PubMed: 7661930]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199503303321302]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Itoh, H., Ohsato, K., Yao, T., Iida, M., Watanabe, H.
|
|
<strong>Turcot's syndrome and its mode of inheritance.</strong>
|
|
Gut 20: 414-419, 1979.
|
|
|
|
|
|
[PubMed: 223949]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/gut.20.5.414]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Itoh, H., Ohsato, K.
|
|
<strong>Turcot syndrome and its characteristic colonic manifestations.</strong>
|
|
Dis. Colon Rectum 28: 399-402, 1985.
|
|
|
|
|
|
[PubMed: 4006635]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF02560221]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kikuchi, T., Rempel, S. A., Rutz, H.-P., de Tribolet, N., Mulligan, L., Cavenee, W. K., Jothy, S., Leduy, L., Van Meir, E. G.
|
|
<strong>Turcot's syndrome of glioma and polyposis occurs in the absence of germ line mutations of exons 5 to 9 of the p53 gene.</strong>
|
|
Cancer Res. 53: 957-961, 1993.
|
|
|
|
|
|
[PubMed: 8439970]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lasser, D. M., DeVivo, D. C., Garvin, J., Wilhelmsen, K. C.
|
|
<strong>Turcot's syndrome: evidence for linkage to the adenomatous polyposis coli (APC) locus.</strong>
|
|
Neurology 44: 1083-1086, 1994.
|
|
|
|
|
|
[PubMed: 8208405]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.44.6.1083]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lewis, J. H., Ginsberg, A. L., Toomey, K. E.
|
|
<strong>Turcot's syndrome: evidence for autosomal dominant inheritance.</strong>
|
|
Cancer 51: 524-528, 1983.
|
|
|
|
|
|
[PubMed: 6821830]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/1097-0142(19830201)51:3<524::aid-cncr2820510326>3.0.co;2-i]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Li, F. P., Little, J. B., Bech-Hansen, N. T., Paterson, M. C., Arlett, C., Garnick, M. B., Mayer, R. J.
|
|
<strong>Acute leukemia after radiotherapy in a patient with Turcot's syndrome: impaired colony formation in skin fibroblast cultures after irradiation.</strong>
|
|
Am. J. Med. 74: 343-348, 1983.
|
|
|
|
|
|
[PubMed: 6572034]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9343(83)90643-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mastronardi, L., Ferrante, L., Lunardi, P., Cervoni, L., Fortuna, A.
|
|
<strong>Association between neuroepithelial tumor and multiple intestinal polyposis (Turcot's syndrome): report of a case and critical analysis of the literature.</strong>
|
|
Neurosurgery 28: 449-452, 1991.
|
|
|
|
|
|
[PubMed: 1849239]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/00006123-199103000-00021]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Michels, V. V., Stevens, J. C.
|
|
<strong>Basal cell carcinoma in a patient with intestinal polyposis.</strong>
|
|
Clin. Genet. 22: 80-82, 1982.
|
|
|
|
|
|
[PubMed: 7172481]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1982.tb01417.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ostergaard, J. R., Sunde, L., Okkels, H.
|
|
<strong>Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.</strong>
|
|
Am. J. Med. Genet. 139A: 96-105, 2005.
|
|
|
|
|
|
[PubMed: 16283678]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.30998]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Paraf, F., Jothy, S., Van Meir, E. G.
|
|
<strong>Brain tumor-polyposis syndrome: two genetic diseases?</strong>
|
|
J. Clin. Oncol. 15: 2744-2758, 1997.
|
|
|
|
|
|
[PubMed: 9215849]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1200/JCO.1997.15.7.2744]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Poley, J.-W., Wagner, A., Hoogmans, M. M. C. P., Menko, F. H., Tops, C., Kros, J. M., Reddingius, R. E., Meijers-Heijboer, H., Kuipers, E. J., Dinjens, W. N. M.
|
|
<strong>Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.</strong>
|
|
Cancer 109: 2349-2356, 2007.
|
|
|
|
|
|
[PubMed: 17440981]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/cncr.22697]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ricciardone, M. D., Ozcelik, T., Cevher, B., Ozdag, H., Tuncer, M., Gurgey, A., Uzunalimoglu, O., Cetinkaya, H., Tanyeli, A., Erken, E., Ozturk, M.
|
|
<strong>Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.</strong>
|
|
Cancer Res. 59: 290-293, 1999.
|
|
|
|
|
|
[PubMed: 9927033]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rothman, D., Su, C. P., Kendall, A. B.
|
|
<strong>Dilemma in a case of Turcot's (glioma-polyposis) syndrome: report of a case.</strong>
|
|
Dis. Colon Rectum 18: 514-515, 1975.
|
|
|
|
|
|
[PubMed: 1236687]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF02587222]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tops, C. M. J., Vasen, H. F. A., van Berge Henegouwen, G., Simoons, P. P., van de Klift, H. M., van Leeuwen, I. S. J., Breukel, C., Fodde, R., den Hartog Jager, F. C. A., Nagengast, F. M., Griffioen, G., Meera Khan, P.
|
|
<strong>Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis.</strong>
|
|
Am. J. Med. Genet. 43: 888-893, 1992.
|
|
|
|
|
|
[PubMed: 1322639]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320430528]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Trimbath, J. D., Petersen, G. M., Erdman, S. H., Ferre, M., Luce, M. C., Giardiello, F. M.
|
|
<strong>Cafe-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?</strong>
|
|
Fam. Cancer 1: 101-105, 2001.
|
|
|
|
|
|
[PubMed: 14574005]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1023/a:1013881832014]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Turcot, J., Despres, J.-P., St. Pierre, F.
|
|
<strong>Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases.</strong>
|
|
Dis. Colon Rectum 2: 465-468, 1959.
|
|
|
|
|
|
[PubMed: 13839882]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF02616938]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Turcot, J.
|
|
<strong>Personal Communication.</strong>
|
|
Quebec City, Quebec, Canada 1961.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Van Meir, E. G.
|
|
<strong>'Turcot's syndrome': phenotype of brain tumors, survival and mode of inheritance. (Letter)</strong>
|
|
Int. J. Cancer 75: 162-164, 1998.
|
|
|
|
|
|
[PubMed: 9426707]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(sici)1097-0215(19980105)75:1<162::aid-ijc26>3.0.co;2-h]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wang, Q., Montmain, G., Ruano, E., Upadhyaya, M., Dudley, S., Liskay, R. M., Thibodeau, S. N., Puisieux, A.
|
|
<strong>Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.</strong>
|
|
Hum. Genet. 112: 117-123, 2003.
|
|
|
|
|
|
[PubMed: 12522551]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-002-0858-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wimmer, K., Etzler, J.
|
|
<strong>Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?</strong>
|
|
Hum. Genet. 124: 105-122, 2008.
|
|
|
|
|
|
[PubMed: 18709565]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-008-0542-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wimmer, K., Kratz, C. P., Vasen, H. F. A., Caron, O., Colas, C., Entz-Werle, N., Gerdes, A.-M., Goldberg, Y., Ilencikova, D., Muleris, M., Duval, A., Lavoine, N., Ruiz-Ponte, C., Slavc, I., Burkhardt, B., Brugieres, L.
|
|
<strong>Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'Care for CMMRD' (C4CMMRD).</strong>
|
|
J. Med. Genet. 51: 355-365, 2014.
|
|
|
|
|
|
[PubMed: 24737826]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmedgenet-2014-102284]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yaffee, H. S.
|
|
<strong>Gastric polyposis and soft tissue tumors: a variant of Gardner's syndrome.</strong>
|
|
Arch. Derm. 89: 806-808, 1964.
|
|
|
|
|
|
[PubMed: 14164962]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archderm.1964.01590300034011]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Kelly A. Przylepa - updated : 05/18/2021<br>Cassandra L. Kniffin - updated : 6/8/2015<br>Cassandra L. Kniffin - updated : 6/18/2014<br>Ada Hamosh - updated : 4/29/2013<br>Cassandra L. Kniffin - updated : 4/22/2013<br>Cassandra L. Kniffin - updated : 7/19/2010<br>Cassandra L. Kniffin - updated : 9/21/2009<br>Cassandra L. Kniffin - updated : 2/16/2009<br>Cassandra L. Kniffin - updated : 2/4/2008<br>Cassandra L. Kniffin - reorganized : 1/14/2008<br>Victor A. McKusick - updated : 4/27/2004<br>Ada Hamosh - updated : 6/14/1999<br>Victor A. McKusick - updated : 11/10/1998
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/4/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 05/19/2021<br>carol : 05/18/2021<br>alopez : 02/11/2021<br>carol : 11/25/2020<br>alopez : 11/24/2020<br>alopez : 11/24/2020<br>carol : 02/25/2016<br>carol : 6/10/2015<br>mcolton : 6/9/2015<br>ckniffin : 6/8/2015<br>carol : 6/19/2014<br>ckniffin : 6/18/2014<br>alopez : 4/29/2013<br>ckniffin : 4/22/2013<br>carol : 1/31/2013<br>wwang : 7/20/2010<br>ckniffin : 7/19/2010<br>wwang : 9/25/2009<br>ckniffin : 9/21/2009<br>carol : 2/20/2009<br>ckniffin : 2/16/2009<br>carol : 2/6/2009<br>ckniffin : 3/24/2008<br>ckniffin : 3/13/2008<br>wwang : 2/19/2008<br>ckniffin : 2/4/2008<br>carol : 1/14/2008<br>ckniffin : 1/7/2008<br>carol : 9/6/2007<br>mgross : 4/14/2005<br>alopez : 4/29/2004<br>terry : 4/27/2004<br>carol : 11/13/2001<br>carol : 6/28/1999<br>terry : 6/14/1999<br>carol : 1/22/1999<br>terry : 11/10/1998<br>alopez : 7/31/1997<br>terry : 6/16/1995<br>mark : 6/8/1995<br>warfield : 4/20/1994<br>pfoster : 4/1/1994<br>mimadm : 3/12/1994<br>carol : 4/28/1993
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div id="mimFooter">
|
|
|
|
|
|
<div class="container ">
|
|
<div class="row">
|
|
<br />
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="hidden-print mim-footer">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="visible-print-block mim-footer" style="position: relative;">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
<br />
|
|
Printed: March 5, 2025
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
|
|
<div class="modal-dialog" role="document">
|
|
<div class="modal-content">
|
|
<div class="modal-header">
|
|
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">×</span></button>
|
|
<h4 class="modal-title" id="mimDonationPopupModalTitle">
|
|
OMIM Donation:
|
|
</h4>
|
|
</div>
|
|
<div class="modal-body">
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Dear OMIM User,
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
To ensure long-term funding for the OMIM project, we have diversified
|
|
our revenue stream. We are determined to keep this website freely
|
|
accessible. Unfortunately, it is not free to produce. Expert curators
|
|
review the literature and organize it to facilitate your work. Over 90%
|
|
of the OMIM's operating expenses go to salary support for MD and PhD
|
|
science writers and biocurators. Please join your colleagues by making a
|
|
donation now and again in the future. Donations are an important
|
|
component of our efforts to ensure long-term funding to provide you the
|
|
information that you need at your fingertips.
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Thank you in advance for your generous support, <br />
|
|
Ada Hamosh, MD, MPH <br />
|
|
Scientific Director, OMIM <br />
|
|
</p>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div class="modal-footer">
|
|
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
</body>
|
|
|
|
</html>
|
|
|
|
|