2483 lines
170 KiB
Text
2483 lines
170 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
|
|
|
|
- %607107 - NASOPHARYNGEAL CARCINOMA
|
|
|
|
|
|
- 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=607107"><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">%607107</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="#geneMap"><strong>Gene-Phenotype Relationships</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="#inheritance">Inheritance</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#populationGenetics">Population 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="mimGeneInfo">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Gene Info</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="http://biogps.org/#goto=genereport&id=257641" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+257641" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gene/257641" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</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="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=NASOPHARYNGEAL CARCINOMA" 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=1063&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.diseaseinfosearch.org/x/5110" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607107[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=150" 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>
|
|
</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="http://www.informatics.jax.org/disease/607107" 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://omia.org/OMIA001990/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://wormbase.org/resources/disease/DOID:9261" 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>
|
|
|
|
</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> 449248000<br />
|
|
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 150<br />
|
|
|
|
|
|
<strong>DO:</strong> 9261<br />
|
|
|
|
|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description or locus, molecular basis unknown">
|
|
<span class="text-danger"><strong>%</strong></span>
|
|
607107
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
NASOPHARYNGEAL CARCINOMA
|
|
|
|
</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">
|
|
NPCA<br />
|
|
NPC<br />
|
|
NASOPHARYNGEAL CANCER
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 1, INCLUDED; NPCA1, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/4/142?start=-3&limit=10&highlight=142">4p15.1-q12</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:27700001-58500000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">4:27,700,001-58,500,000</a> </span>
|
|
</em>
|
|
</strong>
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<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>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/4/142?start=-3&limit=10&highlight=142">
|
|
4p15.1-q12
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
{Nasopharyngeal carcinoma 1}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/607107"> 607107 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods">2</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<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/607107" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/607107" 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>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4>
|
|
|
|
<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>
|
|
<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>Nasopharyngeal carcinoma (NPC, NPCA) is a multifactorial malignancy associated with both genetic and environmental factors. The cancer arises from the epithelium of the nasopharynx. The Epstein-Barr virus has been implicated (<a href="#12" class="mim-tip-reference" title="Tse, K. P., Su, W.-H., Chang, K.-P., Tsang, N.-M., Yu, C.-J., Tang, P., See, L.-C., Hsueh, C., Yang, M.-L., Hao, S.-P., Li, H.-Y., Wang, M.-H., Liao, L.-P., Chen, L.-C., Lin, S.-R., Jorgensen, T. J., Chang, Y.-S., Shugart, Y. Y. <strong>Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.</strong> Am. J. Hum. Genet. 85: 194-203, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19664746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19664746</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19664746[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/10.1016/j.ajhg.2009.07.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19664746">Tse et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19664746" 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 Susceptibility to Nasopharyngeal Carcinoma</em></strong></p><p>
|
|
NPCA1 maps to chromosome 4p. NPCA2 (<a href="/entry/161550">161550</a>) maps to chromosome 6p21. NPCA3 (<a href="/entry/617075">617075</a>) is associated with variation in the MST1R gene (<a href="/entry/600168">600168</a>) on chromosome 3p21.</p><p>Somatic mutations have been found in the TP53 gene (<a href="/entry/191170">191170</a>) in nasopharyngeal carcinoma tumors.</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>The high frequency of NPC in southeast Asian individuals, especially persons of Cantonese Chinese ancestry, suggests a strong genetic factor predisposing to the development of the disorder. In areas with high incidence, NPC clusters in families, which suggests that both geography and genetics may influence disease risk (<a href="#3" class="mim-tip-reference" title="Feng, B.-J., Huang, W., Shugart, Y. Y., Lee, M. K., Zhang, F., Xia, J.-C., Wang, H.-Y., Huang, T.-B., Jian, S.-W., Huang, P., Feng, Q.-S., Huang, L.-X., and 18 others. <strong>Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4.</strong> Nature Genet. 31: 395-399, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12118254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12118254</a>] [<a href="https://doi.org/10.1038/ng932" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12118254">Feng et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12118254" 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="#5" class="mim-tip-reference" title="Gajwani, B. W., Devereaux, J. M., Beg, J. A. <strong>Familial clustering of nasopharyngeal carcinoma.</strong> Cancer 46: 2325-2327, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7191767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7191767</a>] [<a href="https://doi.org/10.1002/1097-0142(19801115)46:10<2325::aid-cncr2820461035>3.0.co;2-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7191767">Gajwani et al. (1980)</a> described nasopharyngeal carcinoma in 4 sibs, 2 of them dizygotic twins. They came from a sibship of 11, all born in the U.S. of Poland-born nonconsanguineous parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7191767" 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="#4" class="mim-tip-reference" title="Fischer, A., Fischer, G. O., Cooper, E. <strong>Familial nasopharyngeal carcinoma.</strong> Pathology 16: 23-24, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6609336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6609336</a>] [<a href="https://doi.org/10.3109/00313028409067906" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6609336">Fischer et al. (1984)</a> described 2 affected brothers with an affected male first cousin, all born in Australia of Greek extraction. The brothers were nonsmokers and used little alcohol. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6609336" 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>In a genomewide search carried out in 32 families at high risk of NPC in Guangdong Province, China, <a href="#3" class="mim-tip-reference" title="Feng, B.-J., Huang, W., Shugart, Y. Y., Lee, M. K., Zhang, F., Xia, J.-C., Wang, H.-Y., Huang, T.-B., Jian, S.-W., Huang, P., Feng, Q.-S., Huang, L.-X., and 18 others. <strong>Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4.</strong> Nature Genet. 31: 395-399, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12118254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12118254</a>] [<a href="https://doi.org/10.1038/ng932" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12118254">Feng et al. (2002)</a> found parametric linkage to marker D4S405 on chromosome 4, with a lod score of 3.06 and a heterogeneity lod (hlod) score of 3.21. Fine mapping with additional markers resulted in a lod score of 3.54 and hlod of 3.67 for the region 4p15.1-q12. Multipoint nonparametric linkage analysis gave lod scores of 3.54 and 4.2 at D4S405 and D4S3002, (positioned at 4.5 cM away from D4S405), respectively. When Epstein-Barr virus antibody titer was included as a covariate, the lod score reached 4.70 and 5.36 for the 2 markers, respectively. <a href="#3" class="mim-tip-reference" title="Feng, B.-J., Huang, W., Shugart, Y. Y., Lee, M. K., Zhang, F., Xia, J.-C., Wang, H.-Y., Huang, T.-B., Jian, S.-W., Huang, P., Feng, Q.-S., Huang, L.-X., and 18 others. <strong>Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4.</strong> Nature Genet. 31: 395-399, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12118254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12118254</a>] [<a href="https://doi.org/10.1038/ng932" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12118254">Feng et al. (2002)</a> interpreted the evidence as indicating the presence of a major susceptibility locus for NPC on chromosome 4 in a subset of families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12118254" 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="Liang, H., Chen, H., Shen, Y., Feng, Q., Jin, W., Huang, W., Zeng, Y. <strong>A rare polymorphism of the COX7B2 gene in a Cantonese family with nasopharyngeal carcinoma.</strong> Sci. China C Life Sci. 47: 449-453, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15623157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15623157</a>] [<a href="https://doi.org/10.1360/03yc0037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15623157">Liang et al. (2004)</a> identified a single-nucleotide polymorphism (SNP) in the COX7B2 gene (H26Q; see <a href="/entry/609811">609811</a>) on 4p12 in 2 affected members of a Chinese family (pedigree 31) with nasopharyngeal carcinoma linked to chromosome 4p14-p11. Further analysis showed that the 6 related patients who shared a common disease haplotype all carried the H26Q substitution. However, 1 affected family member did not have the SNP and 5 unaffected family members did have the SNP. In addition, the H26Q substitution was not identified in patients from 7 additional families linked to NPCA1 locus or in 136 unrelated sporadic cases. <a href="#9" class="mim-tip-reference" title="Liang, H., Chen, H., Shen, Y., Feng, Q., Jin, W., Huang, W., Zeng, Y. <strong>A rare polymorphism of the COX7B2 gene in a Cantonese family with nasopharyngeal carcinoma.</strong> Sci. China C Life Sci. 47: 449-453, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15623157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15623157</a>] [<a href="https://doi.org/10.1360/03yc0037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15623157">Liang et al. (2004)</a> suggested that the H26Q SNP may contribute to disease susceptibility in their family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15623157" 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 4 affected individuals and 2 controls from the 2 largest Chinese NPCA pedigrees that had previously shown strong linkage to chromosome 4 (pedigrees '31' and '34' in <a href="#3" class="mim-tip-reference" title="Feng, B.-J., Huang, W., Shugart, Y. Y., Lee, M. K., Zhang, F., Xia, J.-C., Wang, H.-Y., Huang, T.-B., Jian, S.-W., Huang, P., Feng, Q.-S., Huang, L.-X., and 18 others. <strong>Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4.</strong> Nature Genet. 31: 395-399, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12118254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12118254</a>] [<a href="https://doi.org/10.1038/ng932" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12118254">Feng et al., 2002</a>), <a href="#7" class="mim-tip-reference" title="Jiang, R.-C., Qin, H.-D., Zeng, M.-S., Huang, W., Feng, B.-J., zhang, F., Chen, H.-K., Jia, W.-H., Chen, L.-Z., Feng, Q.-S., Zhang, R.-H., Yu, X.-J., Zheng, M.-Z., Zeng, Y.-X. <strong>A functional variant in the transcriptional regulatory region of gene LOC344967 cosegregates with disease phenotype in familial nasopharyngeal carcinoma.</strong> Cancer Res. 66: 693-700, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16423998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16423998</a>] [<a href="https://doi.org/10.1158/0008-5472.CAN-05-2166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16423998">Jiang et al. (2006)</a> analyzed 78 candidate genes and 6 predicted genes and identified a -32A polymorphism (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17585937;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17585937</a>) in the LOC344967 gene (<a href="/entry/611963">611963</a>) on chromosome 4p14-p11 that cosegregated with the disease phenotype. Analysis of all family members from the 32 pedigrees previously studied revealed that all affected individuals in the 3 largest and most strongly linked pedigrees ('31,' '34,' and '62') carried the -32A SNP; the variant was also present in 10 of 18 unaffected family members. In the remaining 29 pedigrees, about one-third of cases shared the -32A variant. <a href="#7" class="mim-tip-reference" title="Jiang, R.-C., Qin, H.-D., Zeng, M.-S., Huang, W., Feng, B.-J., zhang, F., Chen, H.-K., Jia, W.-H., Chen, L.-Z., Feng, Q.-S., Zhang, R.-H., Yu, X.-J., Zheng, M.-Z., Zeng, Y.-X. <strong>A functional variant in the transcriptional regulatory region of gene LOC344967 cosegregates with disease phenotype in familial nasopharyngeal carcinoma.</strong> Cancer Res. 66: 693-700, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16423998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16423998</a>] [<a href="https://doi.org/10.1158/0008-5472.CAN-05-2166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16423998">Jiang et al. (2006)</a> found that the expression of LOC344967 was significantly upregulated at both mRNA and protein levels in 2 NPCA cell lines with the -32G/A genotype compared to 2 NPCA cell lines with the -32G/G genotype. They concluded that the -32A variant in the LOC344967 gene may be related to NPCA susceptibility in the families studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16423998+12118254" 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>Associations Pending Confirmation</em></strong></p><p>
|
|
<a href="#6" class="mim-tip-reference" title="He, Y., Zhou, G., Zhai, Y., Dong, X., Lv, L., He, F., Yao, K. <strong>Association of PLUNC gene polymorphisms with susceptibility to nasopharyngeal carcinoma in a Chinese population. (Letter)</strong> J. Med. Genet. 42: 172-176, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15689457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15689457</a>] [<a href="https://doi.org/10.1136/jmg.2004.022616" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15689457">He et al. (2005)</a> screened all exons, relevant exon-intron boundaries, and the approximately 2-kb promoter region of the palate, lung, and nasal epithelium carcinoma-associated protein gene (PLUNC; <a href="/entry/607412">607412</a>) on chromosome 20q11 and identified 8 SNPs. Three haplotype-tagged SNPs were genotyped in a case-control Chinese population composed of 239 unrelated patients with nasopharyngeal carcinoma and 286 healthy controls. Two promoter SNPs, -2128T-C and -1888T-C, showed significant associations with susceptibility to NPC (OR = 2.8, p less than 0.0006, and OR = 3.3, p less than 0.0001, respectively). The distribution of haplotypes constructed based on the -2128T-C and -1888T-C polymorphisms was significantly different between NPC patients and controls: individuals with the C/C haplotype had significantly increased susceptibility to NPC (OR = 1.86, p = 0.00016). <a href="#6" class="mim-tip-reference" title="He, Y., Zhou, G., Zhai, Y., Dong, X., Lv, L., He, F., Yao, K. <strong>Association of PLUNC gene polymorphisms with susceptibility to nasopharyngeal carcinoma in a Chinese population. (Letter)</strong> J. Med. Genet. 42: 172-176, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15689457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15689457</a>] [<a href="https://doi.org/10.1136/jmg.2004.022616" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15689457">He et al. (2005)</a> concluded that genetic variation in PLUNC may influence susceptibility to NPC in the Chinese population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15689457" 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>To identify genetic susceptibility loci for nasopharyngeal carcinoma, <a href="#1" class="mim-tip-reference" title="Bei, J.-X., Li, Y., Jia, W.-H., Feng, B.-J., Zhou, G., Chen, L.-Z., Feng, Q.-S., Low, H.-Q., Zhang, H., He, F., Tai, E. S., Kang, T., Liu, E. T., Liu, J., Zeng, Y.-X. <strong>A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.</strong> Nature Genet. 42: 599-603, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20512145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20512145</a>] [<a href="https://doi.org/10.1038/ng.601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20512145">Bei et al. (2010)</a> performed a genomewide association study using 464,328 autosomal SNPs in 1,583 NPC affected individuals and 1,894 controls of southern Chinese descent. The top 49 SNPs from the genomewide association study were genotyped in 3,507 cases and 3,063 controls of southern Chinese descent from Guangdong and Guangxi. The 7 supportive SNPs were further confirmed by transmission disequilibrium test analysis in 279 trios from Guangdong. <a href="#1" class="mim-tip-reference" title="Bei, J.-X., Li, Y., Jia, W.-H., Feng, B.-J., Zhou, G., Chen, L.-Z., Feng, Q.-S., Low, H.-Q., Zhang, H., He, F., Tai, E. S., Kang, T., Liu, E. T., Liu, J., Zeng, Y.-X. <strong>A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.</strong> Nature Genet. 42: 599-603, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20512145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20512145</a>] [<a href="https://doi.org/10.1038/ng.601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20512145">Bei et al. (2010)</a> identified 3 new susceptibility loci, TNFRSF19 (<a href="/entry/606122">606122</a>) on 13q12 (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs9510787;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs9510787</a>, p combined = 1.53 x 10(-9), OR = 1.20), MDS1-EVI1 (see <a href="/entry/600049">600049</a>) on 3q26 (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs6774494;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs6774494</a>, p combined = 1.34 x 10(-8), OR = 0.84), and the CDKN2A-CDKN2B (<a href="/entry/600160">600160</a>, <a href="/entry/600431">600431</a>) gene cluster on 9q21 (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1412829;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1412829</a>, p combined = 4.84 x 10(-7), OR = 0.78). Furthermore, <a href="#1" class="mim-tip-reference" title="Bei, J.-X., Li, Y., Jia, W.-H., Feng, B.-J., Zhou, G., Chen, L.-Z., Feng, Q.-S., Low, H.-Q., Zhang, H., He, F., Tai, E. S., Kang, T., Liu, E. T., Liu, J., Zeng, Y.-X. <strong>A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.</strong> Nature Genet. 42: 599-603, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20512145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20512145</a>] [<a href="https://doi.org/10.1038/ng.601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20512145">Bei et al. (2010)</a> confirmed the role of HLA by revealing independent associations at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2860580;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2860580</a> (p combined = 4.88 x 10(-67), OR = 5.8), <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2894207;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2894207</a> (p combined = 3.42 x 10(-33), OR = 0.61), and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28421666;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs28421666</a> (p combined = 2.49 x 10(-18), OR = 0.67). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20512145" 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><strong><em>Somatic Mutations</em></strong></p><p>
|
|
<a href="#11" class="mim-tip-reference" title="Sun, Y., Hegamyer, G., Cheng, Y.-J., Hildesheim, A., Chen, J.-Y., Chen, I.-H., Cao, Y., Yao, K.-T., Colburn, N. H. <strong>An infrequent point mutation of the p53 gene in human nasopharyngeal carcinoma.</strong> Proc. Nat. Acad. Sci. 89: 6516-6520, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1631151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1631151</a>] [<a href="https://doi.org/10.1073/pnas.89.14.6516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1631151">Sun et al. (1992)</a> identified a somatic mutation in the p53 gene (R280T; <a href="/entry/191170#0024">191170.0024</a>) in tumor tissue from a Chinese patient with nasopharyngeal carcinoma. <a href="#2" class="mim-tip-reference" title="Chakrani, F., Armand, J.-P., Lenoir, G., Ju, L., Liang, J.-P., May, E., May, P. <strong>Mutations clustered in exon 5 of the p53 gene in primary nasopharyngeal carcinomas from southeastern Asia.</strong> Int. J. Cancer 61: 316-320, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7729941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7729941</a>] [<a href="https://doi.org/10.1002/ijc.2910610307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7729941">Chakrani et al. (1995)</a> studied 41 primary tumors of the undifferentiated nasopharyngeal cancer type from Hong Kong and the Guangxi province of southeastern China. Four somatic point mutations in the TP53 gene were found clustered in exon 5 within the DNA stretch from codon 175 to 177. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7729941+1631151" 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>Using whole-exome and targeted deep sequencing as well as SNP array analysis, <a href="#10" class="mim-tip-reference" title="Lin, D.-C., Meng, X., Hazawa, M., Nagata, Y., Varela, A. M., Xu, L., Sato, Y., Liu, L.-Z., Ding, L.-W., Sharma, A., Goh, B. C., Lee, S. C., and 9 others. <strong>The genomic landscape of nasopharyngeal carcinoma.</strong> Nature Genet. 46: 866-871, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24952746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24952746</a>] [<a href="https://doi.org/10.1038/ng.3006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24952746">Lin et al. (2014)</a> determined the mutational landscape of 128 patients with NPC. These approaches revealed a distinct mutational signature and 9 significantly mutated genes, many of which had not been previously implicated in NPC. Notably, integrated analysis showed enrichment of genetic lesions affecting several important cellular processes and pathways, including chromatin modification, ERBB (see <a href="/entry/131550">131550</a>)-PI3K (see <a href="/entry/601232">601232</a>) signaling, and autophagy machinery. Further functional studies suggested the biologic relevance of these lesions to the NPC malignant phenotype. The 9 significantly mutated genes were BAP1 (<a href="/entry/603089">603089</a>), MLL2 (<a href="/entry/602113">602113</a>), TSHZ3 (<a href="/entry/614119">614119</a>), TP53, PIK3CA (<a href="/entry/171834">171834</a>), ERBB2 (<a href="/entry/164870">164870</a>), ERBB3 (<a href="/entry/190151">190151</a>) KRAS (<a href="/entry/190070">190070</a>), and NRAS (<a href="/entry/164790">164790</a>). The ARID1A (<a href="/entry/603024">603024</a>) gene, which encodes a component of the SWI/SNF complex, was frequently deleted in NPC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24952746" 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="populationGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimPopulationGeneticsFold" id="mimPopulationGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimPopulationGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Population Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimPopulationGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Nasopharyngeal carcinoma is most prominent in southeast Asia regions, including China, Hong Kong, and Taiwan, where the annual incidence rate is approximately 25-fold higher than in the Western world (<a href="#12" class="mim-tip-reference" title="Tse, K. P., Su, W.-H., Chang, K.-P., Tsang, N.-M., Yu, C.-J., Tang, P., See, L.-C., Hsueh, C., Yang, M.-L., Hao, S.-P., Li, H.-Y., Wang, M.-H., Liao, L.-P., Chen, L.-C., Lin, S.-R., Jorgensen, T. J., Chang, Y.-S., Shugart, Y. Y. <strong>Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.</strong> Am. J. Hum. Genet. 85: 194-203, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19664746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19664746</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19664746[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/10.1016/j.ajhg.2009.07.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19664746">Tse et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19664746" 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="#Kirk1978" class="mim-tip-reference" title="Kirk, R. L., Blake, N. M., Serjeantson, S., Simons, M. J., Chan, S. H. <strong>Genetic components in susceptibility to nasopharyngeal carcinoma. In: de The, G.; Ito, Y.: Nasopharyngeal Carcinoma: Etiology and Control.</strong> Lyon, France: 1 ARC (pub.) 1978. Pp. 283-297.">Kirk et al. (1978)</a>; <a href="#Wen1974" class="mim-tip-reference" title="Wen, C.-P. <strong>Nasopharyngeal cancer. In: Quinn, J. R. (ed.): China Medicine as We Saw It.</strong> Bethesda, Md.: DHEW (NIH) 75-684 (pub.) 1974. Pp. 289-344.">Wen (1974)</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="Bei2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bei, J.-X., Li, Y., Jia, W.-H., Feng, B.-J., Zhou, G., Chen, L.-Z., Feng, Q.-S., Low, H.-Q., Zhang, H., He, F., Tai, E. S., Kang, T., Liu, E. T., Liu, J., Zeng, Y.-X.
|
|
<strong>A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.</strong>
|
|
Nature Genet. 42: 599-603, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20512145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20512145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20512145" 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/ng.601" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Chakrani1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chakrani, F., Armand, J.-P., Lenoir, G., Ju, L., Liang, J.-P., May, E., May, P.
|
|
<strong>Mutations clustered in exon 5 of the p53 gene in primary nasopharyngeal carcinomas from southeastern Asia.</strong>
|
|
Int. J. Cancer 61: 316-320, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7729941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7729941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7729941" 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/ijc.2910610307" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Feng2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Feng, B.-J., Huang, W., Shugart, Y. Y., Lee, M. K., Zhang, F., Xia, J.-C., Wang, H.-Y., Huang, T.-B., Jian, S.-W., Huang, P., Feng, Q.-S., Huang, L.-X., and 18 others.
|
|
<strong>Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4.</strong>
|
|
Nature Genet. 31: 395-399, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12118254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12118254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12118254" 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/ng932" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Fischer1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fischer, A., Fischer, G. O., Cooper, E.
|
|
<strong>Familial nasopharyngeal carcinoma.</strong>
|
|
Pathology 16: 23-24, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6609336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6609336</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6609336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.3109/00313028409067906" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Gajwani1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gajwani, B. W., Devereaux, J. M., Beg, J. A.
|
|
<strong>Familial clustering of nasopharyngeal carcinoma.</strong>
|
|
Cancer 46: 2325-2327, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7191767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7191767</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7191767" 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(19801115)46:10<2325::aid-cncr2820461035>3.0.co;2-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="He2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
He, Y., Zhou, G., Zhai, Y., Dong, X., Lv, L., He, F., Yao, K.
|
|
<strong>Association of PLUNC gene polymorphisms with susceptibility to nasopharyngeal carcinoma in a Chinese population. (Letter)</strong>
|
|
J. Med. Genet. 42: 172-176, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15689457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15689457</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15689457" 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/jmg.2004.022616" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Jiang2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jiang, R.-C., Qin, H.-D., Zeng, M.-S., Huang, W., Feng, B.-J., zhang, F., Chen, H.-K., Jia, W.-H., Chen, L.-Z., Feng, Q.-S., Zhang, R.-H., Yu, X.-J., Zheng, M.-Z., Zeng, Y.-X.
|
|
<strong>A functional variant in the transcriptional regulatory region of gene LOC344967 cosegregates with disease phenotype in familial nasopharyngeal carcinoma.</strong>
|
|
Cancer Res. 66: 693-700, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16423998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16423998</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16423998" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1158/0008-5472.CAN-05-2166" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Kirk1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kirk, R. L., Blake, N. M., Serjeantson, S., Simons, M. J., Chan, S. H.
|
|
<strong>Genetic components in susceptibility to nasopharyngeal carcinoma. In: de The, G.; Ito, Y.: Nasopharyngeal Carcinoma: Etiology and Control.</strong>
|
|
Lyon, France: 1 ARC (pub.) 1978. Pp. 283-297.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Liang2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Liang, H., Chen, H., Shen, Y., Feng, Q., Jin, W., Huang, W., Zeng, Y.
|
|
<strong>A rare polymorphism of the COX7B2 gene in a Cantonese family with nasopharyngeal carcinoma.</strong>
|
|
Sci. China C Life Sci. 47: 449-453, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15623157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15623157</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15623157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1360/03yc0037" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Lin2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lin, D.-C., Meng, X., Hazawa, M., Nagata, Y., Varela, A. M., Xu, L., Sato, Y., Liu, L.-Z., Ding, L.-W., Sharma, A., Goh, B. C., Lee, S. C., and 9 others.
|
|
<strong>The genomic landscape of nasopharyngeal carcinoma.</strong>
|
|
Nature Genet. 46: 866-871, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24952746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24952746</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24952746" 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/ng.3006" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Sun1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sun, Y., Hegamyer, G., Cheng, Y.-J., Hildesheim, A., Chen, J.-Y., Chen, I.-H., Cao, Y., Yao, K.-T., Colburn, N. H.
|
|
<strong>An infrequent point mutation of the p53 gene in human nasopharyngeal carcinoma.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 6516-6520, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1631151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1631151</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1631151" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.89.14.6516" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Tse2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tse, K. P., Su, W.-H., Chang, K.-P., Tsang, N.-M., Yu, C.-J., Tang, P., See, L.-C., Hsueh, C., Yang, M.-L., Hao, S.-P., Li, H.-Y., Wang, M.-H., Liao, L.-P., Chen, L.-C., Lin, S.-R., Jorgensen, T. J., Chang, Y.-S., Shugart, Y. Y.
|
|
<strong>Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.</strong>
|
|
Am. J. Hum. Genet. 85: 194-203, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19664746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19664746</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19664746[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=19664746" 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.ajhg.2009.07.007" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Wen1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wen, C.-P.
|
|
<strong>Nasopharyngeal cancer. In: Quinn, J. R. (ed.): China Medicine as We Saw It.</strong>
|
|
Bethesda, Md.: DHEW (NIH) 75-684 (pub.) 1974. Pp. 289-344.
|
|
|
|
|
|
|
|
|
|
|
|
</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">
|
|
Ada Hamosh - updated : 09/08/2014
|
|
</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">
|
|
Ada Hamosh - updated : 11/10/2010<br>Cassandra L. Kniffin - updated : 10/9/2009<br>Marla J. F. O'Neill - updated : 4/17/2008<br>Cassandra L. Kniffin - updated : 1/6/2006
|
|
</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 : 7/18/2002
|
|
</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 : 11/08/2018
|
|
</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 : 08/19/2016<br>ckniffin : 08/18/2016<br>carol : 08/10/2016<br>alopez : 09/08/2014<br>terry : 4/12/2012<br>alopez : 11/12/2010<br>terry : 11/10/2010<br>wwang : 10/16/2009<br>ckniffin : 10/9/2009<br>carol : 4/17/2008<br>carol : 1/10/2006<br>ckniffin : 1/6/2006<br>carol : 4/21/2005<br>joanna : 3/19/2004<br>alopez : 8/1/2002<br>alopez : 7/18/2002<br>alopez : 7/18/2002
|
|
</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> 607107
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
NASOPHARYNGEAL CARCINOMA
|
|
|
|
</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">
|
|
NPCA<br />
|
|
NPC<br />
|
|
NASOPHARYNGEAL CANCER
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 1, INCLUDED; NPCA1, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 449248000;
|
|
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 150;
|
|
|
|
|
|
<strong>DO:</strong> 9261;
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 4p15.1-q12
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 4:27,700,001-58,500,000 </span>
|
|
</em>
|
|
</strong>
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype 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>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
4p15.1-q12
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
{Nasopharyngeal carcinoma 1}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
607107
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Nasopharyngeal carcinoma (NPC, NPCA) is a multifactorial malignancy associated with both genetic and environmental factors. The cancer arises from the epithelium of the nasopharynx. The Epstein-Barr virus has been implicated (Tse et al., 2009). </p><p><strong><em>Genetic Heterogeneity of Susceptibility to Nasopharyngeal Carcinoma</em></strong></p><p>
|
|
NPCA1 maps to chromosome 4p. NPCA2 (161550) maps to chromosome 6p21. NPCA3 (617075) is associated with variation in the MST1R gene (600168) on chromosome 3p21.</p><p>Somatic mutations have been found in the TP53 gene (191170) in nasopharyngeal carcinoma tumors.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The high frequency of NPC in southeast Asian individuals, especially persons of Cantonese Chinese ancestry, suggests a strong genetic factor predisposing to the development of the disorder. In areas with high incidence, NPC clusters in families, which suggests that both geography and genetics may influence disease risk (Feng et al., 2002). </p><p>Gajwani et al. (1980) described nasopharyngeal carcinoma in 4 sibs, 2 of them dizygotic twins. They came from a sibship of 11, all born in the U.S. of Poland-born nonconsanguineous parents. </p><p>Fischer et al. (1984) described 2 affected brothers with an affected male first cousin, all born in Australia of Greek extraction. The brothers were nonsmokers and used little alcohol. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a genomewide search carried out in 32 families at high risk of NPC in Guangdong Province, China, Feng et al. (2002) found parametric linkage to marker D4S405 on chromosome 4, with a lod score of 3.06 and a heterogeneity lod (hlod) score of 3.21. Fine mapping with additional markers resulted in a lod score of 3.54 and hlod of 3.67 for the region 4p15.1-q12. Multipoint nonparametric linkage analysis gave lod scores of 3.54 and 4.2 at D4S405 and D4S3002, (positioned at 4.5 cM away from D4S405), respectively. When Epstein-Barr virus antibody titer was included as a covariate, the lod score reached 4.70 and 5.36 for the 2 markers, respectively. Feng et al. (2002) interpreted the evidence as indicating the presence of a major susceptibility locus for NPC on chromosome 4 in a subset of families. </p><p>Liang et al. (2004) identified a single-nucleotide polymorphism (SNP) in the COX7B2 gene (H26Q; see 609811) on 4p12 in 2 affected members of a Chinese family (pedigree 31) with nasopharyngeal carcinoma linked to chromosome 4p14-p11. Further analysis showed that the 6 related patients who shared a common disease haplotype all carried the H26Q substitution. However, 1 affected family member did not have the SNP and 5 unaffected family members did have the SNP. In addition, the H26Q substitution was not identified in patients from 7 additional families linked to NPCA1 locus or in 136 unrelated sporadic cases. Liang et al. (2004) suggested that the H26Q SNP may contribute to disease susceptibility in their family. </p><p>In 4 affected individuals and 2 controls from the 2 largest Chinese NPCA pedigrees that had previously shown strong linkage to chromosome 4 (pedigrees '31' and '34' in Feng et al., 2002), Jiang et al. (2006) analyzed 78 candidate genes and 6 predicted genes and identified a -32A polymorphism (rs17585937) in the LOC344967 gene (611963) on chromosome 4p14-p11 that cosegregated with the disease phenotype. Analysis of all family members from the 32 pedigrees previously studied revealed that all affected individuals in the 3 largest and most strongly linked pedigrees ('31,' '34,' and '62') carried the -32A SNP; the variant was also present in 10 of 18 unaffected family members. In the remaining 29 pedigrees, about one-third of cases shared the -32A variant. Jiang et al. (2006) found that the expression of LOC344967 was significantly upregulated at both mRNA and protein levels in 2 NPCA cell lines with the -32G/A genotype compared to 2 NPCA cell lines with the -32G/G genotype. They concluded that the -32A variant in the LOC344967 gene may be related to NPCA susceptibility in the families studied. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
He et al. (2005) screened all exons, relevant exon-intron boundaries, and the approximately 2-kb promoter region of the palate, lung, and nasal epithelium carcinoma-associated protein gene (PLUNC; 607412) on chromosome 20q11 and identified 8 SNPs. Three haplotype-tagged SNPs were genotyped in a case-control Chinese population composed of 239 unrelated patients with nasopharyngeal carcinoma and 286 healthy controls. Two promoter SNPs, -2128T-C and -1888T-C, showed significant associations with susceptibility to NPC (OR = 2.8, p less than 0.0006, and OR = 3.3, p less than 0.0001, respectively). The distribution of haplotypes constructed based on the -2128T-C and -1888T-C polymorphisms was significantly different between NPC patients and controls: individuals with the C/C haplotype had significantly increased susceptibility to NPC (OR = 1.86, p = 0.00016). He et al. (2005) concluded that genetic variation in PLUNC may influence susceptibility to NPC in the Chinese population. </p><p>To identify genetic susceptibility loci for nasopharyngeal carcinoma, Bei et al. (2010) performed a genomewide association study using 464,328 autosomal SNPs in 1,583 NPC affected individuals and 1,894 controls of southern Chinese descent. The top 49 SNPs from the genomewide association study were genotyped in 3,507 cases and 3,063 controls of southern Chinese descent from Guangdong and Guangxi. The 7 supportive SNPs were further confirmed by transmission disequilibrium test analysis in 279 trios from Guangdong. Bei et al. (2010) identified 3 new susceptibility loci, TNFRSF19 (606122) on 13q12 (rs9510787, p combined = 1.53 x 10(-9), OR = 1.20), MDS1-EVI1 (see 600049) on 3q26 (rs6774494, p combined = 1.34 x 10(-8), OR = 0.84), and the CDKN2A-CDKN2B (600160, 600431) gene cluster on 9q21 (rs1412829, p combined = 4.84 x 10(-7), OR = 0.78). Furthermore, Bei et al. (2010) confirmed the role of HLA by revealing independent associations at rs2860580 (p combined = 4.88 x 10(-67), OR = 5.8), rs2894207 (p combined = 3.42 x 10(-33), OR = 0.61), and rs28421666 (p combined = 2.49 x 10(-18), OR = 0.67). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Somatic Mutations</em></strong></p><p>
|
|
Sun et al. (1992) identified a somatic mutation in the p53 gene (R280T; 191170.0024) in tumor tissue from a Chinese patient with nasopharyngeal carcinoma. Chakrani et al. (1995) studied 41 primary tumors of the undifferentiated nasopharyngeal cancer type from Hong Kong and the Guangxi province of southeastern China. Four somatic point mutations in the TP53 gene were found clustered in exon 5 within the DNA stretch from codon 175 to 177. </p><p>Using whole-exome and targeted deep sequencing as well as SNP array analysis, Lin et al. (2014) determined the mutational landscape of 128 patients with NPC. These approaches revealed a distinct mutational signature and 9 significantly mutated genes, many of which had not been previously implicated in NPC. Notably, integrated analysis showed enrichment of genetic lesions affecting several important cellular processes and pathways, including chromatin modification, ERBB (see 131550)-PI3K (see 601232) signaling, and autophagy machinery. Further functional studies suggested the biologic relevance of these lesions to the NPC malignant phenotype. The 9 significantly mutated genes were BAP1 (603089), MLL2 (602113), TSHZ3 (614119), TP53, PIK3CA (171834), ERBB2 (164870), ERBB3 (190151) KRAS (190070), and NRAS (164790). The ARID1A (603024) gene, which encodes a component of the SWI/SNF complex, was frequently deleted in NPC. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Population Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Nasopharyngeal carcinoma is most prominent in southeast Asia regions, including China, Hong Kong, and Taiwan, where the annual incidence rate is approximately 25-fold higher than in the Western world (Tse et al., 2009). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Kirk et al. (1978); Wen (1974)
|
|
</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">
|
|
Bei, J.-X., Li, Y., Jia, W.-H., Feng, B.-J., Zhou, G., Chen, L.-Z., Feng, Q.-S., Low, H.-Q., Zhang, H., He, F., Tai, E. S., Kang, T., Liu, E. T., Liu, J., Zeng, Y.-X.
|
|
<strong>A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.</strong>
|
|
Nature Genet. 42: 599-603, 2010.
|
|
|
|
|
|
[PubMed: 20512145]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.601]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chakrani, F., Armand, J.-P., Lenoir, G., Ju, L., Liang, J.-P., May, E., May, P.
|
|
<strong>Mutations clustered in exon 5 of the p53 gene in primary nasopharyngeal carcinomas from southeastern Asia.</strong>
|
|
Int. J. Cancer 61: 316-320, 1995.
|
|
|
|
|
|
[PubMed: 7729941]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ijc.2910610307]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Feng, B.-J., Huang, W., Shugart, Y. Y., Lee, M. K., Zhang, F., Xia, J.-C., Wang, H.-Y., Huang, T.-B., Jian, S.-W., Huang, P., Feng, Q.-S., Huang, L.-X., and 18 others.
|
|
<strong>Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4.</strong>
|
|
Nature Genet. 31: 395-399, 2002.
|
|
|
|
|
|
[PubMed: 12118254]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng932]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fischer, A., Fischer, G. O., Cooper, E.
|
|
<strong>Familial nasopharyngeal carcinoma.</strong>
|
|
Pathology 16: 23-24, 1984.
|
|
|
|
|
|
[PubMed: 6609336]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/00313028409067906]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gajwani, B. W., Devereaux, J. M., Beg, J. A.
|
|
<strong>Familial clustering of nasopharyngeal carcinoma.</strong>
|
|
Cancer 46: 2325-2327, 1980.
|
|
|
|
|
|
[PubMed: 7191767]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/1097-0142(19801115)46:10<2325::aid-cncr2820461035>3.0.co;2-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
He, Y., Zhou, G., Zhai, Y., Dong, X., Lv, L., He, F., Yao, K.
|
|
<strong>Association of PLUNC gene polymorphisms with susceptibility to nasopharyngeal carcinoma in a Chinese population. (Letter)</strong>
|
|
J. Med. Genet. 42: 172-176, 2005.
|
|
|
|
|
|
[PubMed: 15689457]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.2004.022616]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jiang, R.-C., Qin, H.-D., Zeng, M.-S., Huang, W., Feng, B.-J., zhang, F., Chen, H.-K., Jia, W.-H., Chen, L.-Z., Feng, Q.-S., Zhang, R.-H., Yu, X.-J., Zheng, M.-Z., Zeng, Y.-X.
|
|
<strong>A functional variant in the transcriptional regulatory region of gene LOC344967 cosegregates with disease phenotype in familial nasopharyngeal carcinoma.</strong>
|
|
Cancer Res. 66: 693-700, 2006.
|
|
|
|
|
|
[PubMed: 16423998]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1158/0008-5472.CAN-05-2166]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kirk, R. L., Blake, N. M., Serjeantson, S., Simons, M. J., Chan, S. H.
|
|
<strong>Genetic components in susceptibility to nasopharyngeal carcinoma. In: de The, G.; Ito, Y.: Nasopharyngeal Carcinoma: Etiology and Control.</strong>
|
|
Lyon, France: 1 ARC (pub.) 1978. Pp. 283-297.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liang, H., Chen, H., Shen, Y., Feng, Q., Jin, W., Huang, W., Zeng, Y.
|
|
<strong>A rare polymorphism of the COX7B2 gene in a Cantonese family with nasopharyngeal carcinoma.</strong>
|
|
Sci. China C Life Sci. 47: 449-453, 2004.
|
|
|
|
|
|
[PubMed: 15623157]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1360/03yc0037]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lin, D.-C., Meng, X., Hazawa, M., Nagata, Y., Varela, A. M., Xu, L., Sato, Y., Liu, L.-Z., Ding, L.-W., Sharma, A., Goh, B. C., Lee, S. C., and 9 others.
|
|
<strong>The genomic landscape of nasopharyngeal carcinoma.</strong>
|
|
Nature Genet. 46: 866-871, 2014.
|
|
|
|
|
|
[PubMed: 24952746]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.3006]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sun, Y., Hegamyer, G., Cheng, Y.-J., Hildesheim, A., Chen, J.-Y., Chen, I.-H., Cao, Y., Yao, K.-T., Colburn, N. H.
|
|
<strong>An infrequent point mutation of the p53 gene in human nasopharyngeal carcinoma.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 6516-6520, 1992.
|
|
|
|
|
|
[PubMed: 1631151]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.89.14.6516]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tse, K. P., Su, W.-H., Chang, K.-P., Tsang, N.-M., Yu, C.-J., Tang, P., See, L.-C., Hsueh, C., Yang, M.-L., Hao, S.-P., Li, H.-Y., Wang, M.-H., Liao, L.-P., Chen, L.-C., Lin, S.-R., Jorgensen, T. J., Chang, Y.-S., Shugart, Y. Y.
|
|
<strong>Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.</strong>
|
|
Am. J. Hum. Genet. 85: 194-203, 2009.
|
|
|
|
|
|
[PubMed: 19664746]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2009.07.007]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wen, C.-P.
|
|
<strong>Nasopharyngeal cancer. In: Quinn, J. R. (ed.): China Medicine as We Saw It.</strong>
|
|
Bethesda, Md.: DHEW (NIH) 75-684 (pub.) 1974. Pp. 289-344.
|
|
|
|
</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">
|
|
Ada Hamosh - updated : 09/08/2014<br>Ada Hamosh - updated : 11/10/2010<br>Cassandra L. Kniffin - updated : 10/9/2009<br>Marla J. F. O'Neill - updated : 4/17/2008<br>Cassandra L. Kniffin - updated : 1/6/2006
|
|
</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 : 7/18/2002
|
|
</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 : 11/08/2018<br>carol : 08/19/2016<br>ckniffin : 08/18/2016<br>carol : 08/10/2016<br>alopez : 09/08/2014<br>terry : 4/12/2012<br>alopez : 11/12/2010<br>terry : 11/10/2010<br>wwang : 10/16/2009<br>ckniffin : 10/9/2009<br>carol : 4/17/2008<br>carol : 1/10/2006<br>ckniffin : 1/6/2006<br>carol : 4/21/2005<br>joanna : 3/19/2004<br>alopez : 8/1/2002<br>alopez : 7/18/2002<br>alopez : 7/18/2002
|
|
</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 6, 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>
|
|
|
|
|