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<!--
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||
UID=14326
|
||
ConceptID=C0027672
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary cancer-predisposing syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14326</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; PALB2-Related Cancer Susceptibility; Tumor predisposition</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hereditary neoplastic syndrome (699346009); Hereditary cancer-predisposing syndrome (699346009)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="PALB2 - ID: 79728 - NCBI Gene" href="/gene/79728" class="medgenPMinfo">PALB2</a> (16p12.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015356" target="_blank">MONDO:0015356</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140162">ORPHA140162</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An inherited genetic condition in which members within a family are at an increased risk for the development of benign and/or malignant neoplasms. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0027672[DISCUI]&test_type=Clinical" ref="ncbi_uid=14326">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=14326" ref="ncbi_uid=14326">V</a></span></span><span class="TLline">Hereditary cancer-predisposing syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="matched_ds">Hereditary cancer-predisposing syndrome</span><ul><li><span class="TLline"><a href="/medgen/64512" ref="tree=MeSH" title="MedGen record for 11p partial monosomy syndrome">11p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/436213" ref="tree=MeSH" title="MedGen record for Attenuated familial adenomatous polyposis">Attenuated familial adenomatous polyposis</a></span><ul><li><span class="TLline"><a href="/medgen/1826008" ref="tree=MeSH" title="MedGen record for APC-related attenuated familial adenomatous polyposis">APC-related attenuated familial adenomatous polyposis</a></span></li><li><span class="TLline"><a href="/medgen/1826067" ref="tree=MeSH" title="MedGen record for AXIN2-related attenuated familial adenomatous polyposis">AXIN2-related attenuated familial adenomatous polyposis</a></span></li><li><span class="TLline"><a href="/medgen/474474" ref="tree=MeSH" title="MedGen record for Familial adenomatous polyposis 2">Familial adenomatous polyposis 2</a></span></li><li><span class="TLline"><a href="/medgen/902388" ref="tree=MeSH" title="MedGen record for Familial adenomatous polyposis 3">Familial adenomatous polyposis 3</a></span></li><li><span class="TLline"><a href="/medgen/978356" ref="tree=MeSH" title="MedGen record for MSH3-related attenuated familial adenomatous polyposis">MSH3-related attenuated familial adenomatous polyposis</a></span></li><li><span class="TLline"><a href="/medgen/51342" ref="tree=MeSH" title="MedGen record for Polymerase proofreading-related adenomatous polyposis">Polymerase proofreading-related adenomatous polyposis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3937" ref="tree=MeSH" title="MedGen record for B-K mole (nevus) syndrome">B-K mole (nevus) syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1631254" ref="tree=MeSH" title="MedGen record for BAP1 Tumor Predisposition Syndrome">BAP1 Tumor Predisposition Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/482122" ref="tree=MeSH" title="MedGen record for BAP1-related tumor predisposition syndrome">BAP1-related tumor predisposition syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2562" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome">Beckwith-Wiedemann syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1826104" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 microdeletion">Beckwith-Wiedemann syndrome due to 11p15 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1826126" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 microduplication">Beckwith-Wiedemann syndrome due to 11p15 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1826105" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion">Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion</a></span></li><li><span class="TLline"><a href="/medgen/1826157" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to CDKN1C mutation">Beckwith-Wiedemann syndrome due to CDKN1C mutation</a></span></li><li><span class="TLline"><a href="/medgen/1842606" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to imprinting defect of 11p15">Beckwith-Wiedemann syndrome due to imprinting defect of 11p15</a></span></li><li><span class="TLline"><a href="/medgen/1825953" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to NSD1 mutation">Beckwith-Wiedemann syndrome due to NSD1 mutation</a></span></li><li><span class="TLline"><a href="/medgen/1843183" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11">Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/91070" ref="tree=MeSH" title="MedGen record for Birt-Hogg-Dube syndrome">Birt-Hogg-Dube syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1051978" ref="tree=MeSH" title="MedGen record for Birt-Hogg-Dube syndrome 1">Birt-Hogg-Dube syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1841312" ref="tree=MeSH" title="MedGen record for Birt-Hogg-Dube syndrome 2">Birt-Hogg-Dube syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2685" ref="tree=MeSH" title="MedGen record for Bloom syndrome">Bloom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/83401" ref="tree=MeSH" title="MedGen record for Blue rubber bleb nevus">Blue rubber bleb nevus</a></span></li><li><span class="TLline"><a href="/medgen/140810" ref="tree=MeSH" title="MedGen record for Carney complex">Carney complex</a></span><ul><li><span class="TLline"><a href="/medgen/340253" ref="tree=MeSH" title="MedGen record for Carney complex type 2">Carney complex type 2</a></span></li><li><span class="TLline"><a href="/medgen/388559" ref="tree=MeSH" title="MedGen record for Carney complex, type 1">Carney complex, type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/376098" ref="tree=MeSH" title="MedGen record for Carney-Stratakis syndrome">Carney-Stratakis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1791437" ref="tree=MeSH" title="MedGen record for CDC73-Related Neoplastic Syndrome">CDC73-Related Neoplastic Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1643161" ref="tree=MeSH" title="MedGen record for Familial isolated hyperparathyroidism">Familial isolated hyperparathyroidism</a></span></li><li><span class="TLline"><a href="/medgen/310065" ref="tree=MeSH" title="MedGen record for Hyperparathyroidism 2 with jaw tumors">Hyperparathyroidism 2 with jaw tumors</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1779168" ref="tree=MeSH" title="MedGen record for CDH1-Associated Breast Carcinoma Syndrome">CDH1-Associated Breast Carcinoma Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/91079" ref="tree=MeSH" title="MedGen record for Cobb syndrome">Cobb syndrome</a></span></li><li><span class="TLline"><a href="/medgen/816383" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to OX40 deficiency">Combined immunodeficiency due to OX40 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/40407" ref="tree=MeSH" title="MedGen record for Common variable immunodeficiency">Common variable immunodeficiency</a></span><ul><li><span class="TLline"><a href="/medgen/766426" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to LRBA deficiency">Combined immunodeficiency due to LRBA deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1799211" ref="tree=MeSH" title="MedGen record for IL21-related infantile inflammatory bowel disease">IL21-related infantile inflammatory bowel disease</a></span></li><li><span class="TLline"><a href="/medgen/460728" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 1">Immunodeficiency, common variable, 1</a></span></li><li><span class="TLline"><a href="/medgen/461704" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 2">Immunodeficiency, common variable, 2</a></span></li><li><span class="TLline"><a href="/medgen/462088" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 3">Immunodeficiency, common variable, 3</a></span></li><li><span class="TLline"><a href="/medgen/462089" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 4">Immunodeficiency, common variable, 4</a></span></li><li><span class="TLline"><a href="/medgen/462090" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 5">Immunodeficiency, common variable, 5</a></span></li><li><span class="TLline"><a href="/medgen/462091" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 6">Immunodeficiency, common variable, 6</a></span></li><li><span class="TLline"><a href="/medgen/762276" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 7">Immunodeficiency, common variable, 7</a></span></li><li><span class="TLline"><a href="/medgen/816321" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 10">Immunodeficiency, common variable, 10</a></span></li><li><span class="TLline"><a href="/medgen/906018" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 12">Immunodeficiency, common variable, 12</a></span></li><li><span class="TLline"><a href="/medgen/1614928" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 14">Immunodeficiency, common variable, 14</a></span></li><li><span class="TLline"><a href="/medgen/905078" ref="tree=MeSH" title="MedGen record for Pancytopenia due to IKZF1 mutations">Pancytopenia due to IKZF1 mutations</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1378836" ref="tree=MeSH" title="MedGen record for Constitutional mismatch repair deficiency syndrome">Constitutional mismatch repair deficiency syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/78553" ref="tree=MeSH" title="MedGen record for Turcot syndrome">Turcot syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1748029" ref="tree=MeSH" title="MedGen record for Mismatch repair cancer syndrome 1">Mismatch repair cancer syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1750327" ref="tree=MeSH" title="MedGen record for Mismatch repair cancer syndrome 2">Mismatch repair cancer syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/1733656" ref="tree=MeSH" title="MedGen record for Mismatch repair cancer syndrome 3">Mismatch repair cancer syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1745382" ref="tree=MeSH" title="MedGen record for Mismatch repair cancer syndrome 4">Mismatch repair cancer syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/275520" ref="tree=MeSH" title="MedGen record for Turcot Syndrome Type 1">Turcot Syndrome Type 1</a></span></li><li><span class="TLline"><a href="/medgen/311385" ref="tree=MeSH" title="MedGen record for Turcot Syndrome Type 2">Turcot Syndrome Type 2</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/5420" ref="tree=MeSH" title="MedGen record for Cowden syndrome">Cowden syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/39008" ref="tree=MeSH" title="MedGen record for Proteus syndrome">Proteus syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78580" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita">Dyskeratosis congenita</a></span><ul><li><span class="TLline"><a href="/medgen/502504" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita">Autosomal recessive dyskeratosis congenita</a></span><ul><li><span class="TLline"><a href="/medgen/341705" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 1">Dyskeratosis congenita, autosomal recessive 1</a></span></li><li><span class="TLline"><a href="/medgen/462791" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 2">Dyskeratosis congenita, autosomal recessive 2</a></span></li><li><span class="TLline"><a href="/medgen/462792" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 3">Dyskeratosis congenita, autosomal recessive 3</a></span></li><li><span class="TLline"><a href="/medgen/905452" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 6">Dyskeratosis congenita, autosomal recessive 6</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/462794" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita 4">Autosomal recessive dyskeratosis congenita 4</a></span></li><li><span class="TLline"><a href="/medgen/1645250" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 1">Dyskeratosis congenita, autosomal dominant 1</a></span><ul><li><span class="TLline"><a href="/medgen/462793" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 2">Dyskeratosis congenita, autosomal dominant 2</a></span></li><li><span class="TLline"><a href="/medgen/462795" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 3">Dyskeratosis congenita, autosomal dominant 3</a></span></li><li><span class="TLline"><a href="/medgen/815132" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 4">Dyskeratosis congenita, autosomal dominant 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/904824" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 6">Dyskeratosis congenita, autosomal dominant 6</a></span></li><li><span class="TLline"><a href="/medgen/767570" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 5">Dyskeratosis congenita, autosomal recessive 5</a></span></li><li><span class="TLline"><a href="/medgen/216941" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, X-linked">Dyskeratosis congenita, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/231230" ref="tree=MeSH" title="MedGen record for Revesz syndrome">Revesz syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41775" ref="tree=MeSH" title="MedGen record for Enchondromatosis">Enchondromatosis</a></span></li><li><span class="TLline"><a href="/medgen/41831" ref="tree=MeSH" title="MedGen record for Epidermodysplasia verruciformis">Epidermodysplasia verruciformis</a></span></li><li><span class="TLline"><a href="/medgen/86230" ref="tree=MeSH" title="MedGen record for Euthyroid goiter">Euthyroid goiter</a></span><ul><li><span class="TLline"><a href="/medgen/335327" ref="tree=MeSH" title="MedGen record for Euthyroid multinodular goiter">Euthyroid multinodular goiter</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/389220" ref="tree=MeSH" title="MedGen record for Familial atypical multiple mole melanoma syndrome">Familial atypical multiple mole melanoma syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/320506" ref="tree=MeSH" title="MedGen record for Melanoma, cutaneous malignant, susceptibility to, 1">Melanoma, cutaneous malignant, susceptibility to, 1</a></span></li><li><span class="TLline"><a href="/medgen/325450" ref="tree=MeSH" title="MedGen record for Melanoma-pancreatic cancer syndrome">Melanoma-pancreatic cancer syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/482833" ref="tree=MeSH" title="MedGen record for Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome">Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/46010" ref="tree=MeSH" title="MedGen record for Familial multiple polyposis syndrome">Familial multiple polyposis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1788749" ref="tree=MeSH" title="MedGen record for Familial adenomatous polyposis due to 5q22.2 microdeletion">Familial adenomatous polyposis due to 5q22.2 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/6547" ref="tree=MeSH" title="MedGen record for Gardner syndrome">Gardner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1826134" ref="tree=MeSH" title="MedGen record for Turcot syndrome with polyposis">Turcot syndrome with polyposis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/40219" ref="tree=MeSH" title="MedGen record for Fibrous dysplasia of jaw">Fibrous dysplasia of jaw</a></span></li><li><span class="TLline"><a href="/medgen/1657285" ref="tree=MeSH" title="MedGen record for Gastric adenocarcinoma and proximal polyposis of the stomach">Gastric adenocarcinoma and proximal polyposis of the stomach</a></span></li><li><span class="TLline"><a href="/medgen/436218" ref="tree=MeSH" title="MedGen record for Gastrointestinal stromal tumor, familial">Gastrointestinal stromal tumor, familial</a></span></li><li><span class="TLline"><a href="/medgen/1677024" ref="tree=MeSH" title="MedGen record for GCGR-related hyperglucagonemia">GCGR-related hyperglucagonemia</a></span></li><li><span class="TLline"><a href="/medgen/2554" ref="tree=MeSH" title="MedGen record for Gorlin syndrome">Gorlin syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1054819" ref="tree=MeSH" title="MedGen record for Basal cell nevus syndrome 1">Basal cell nevus syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1841087" ref="tree=MeSH" title="MedGen record for Basal cell nevus syndrome 2">Basal cell nevus syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/151793" ref="tree=MeSH" title="MedGen record for Hereditary breast ovarian cancer syndrome">Hereditary breast ovarian cancer syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/231922" ref="tree=MeSH" title="MedGen record for BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome">BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/231923" ref="tree=MeSH" title="MedGen record for BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome">BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/382914" ref="tree=MeSH" title="MedGen record for Breast-ovarian cancer, familial, susceptibility to, 1">Breast-ovarian cancer, familial, susceptibility to, 1</a></span></li><li><span class="TLline"><a href="/medgen/382625" ref="tree=MeSH" title="MedGen record for Breast-ovarian cancer, familial, susceptibility to, 2">Breast-ovarian cancer, familial, susceptibility to, 2</a></span></li><li><span class="TLline"><a href="/medgen/462009" ref="tree=MeSH" title="MedGen record for Breast-ovarian cancer, familial, susceptibility to, 3">Breast-ovarian cancer, familial, susceptibility to, 3</a></span></li><li><span class="TLline"><a href="/medgen/481975" ref="tree=MeSH" title="MedGen record for Breast-ovarian cancer, familial, susceptibility to, 4">Breast-ovarian cancer, familial, susceptibility to, 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1712465" ref="tree=MeSH" title="MedGen record for Hereditary Colorectal Cancer Syndrome">Hereditary Colorectal Cancer Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/232602" ref="tree=MeSH" title="MedGen record for Hereditary nonpolyposis colon cancer">Hereditary nonpolyposis colon cancer</a></span><ul><li><span class="TLline"><a href="/medgen/856172" ref="tree=MeSH" title="MedGen record for Familial colorectal cancer type X">Familial colorectal cancer type X</a></span></li><li><span class="TLline"><a href="/medgen/1633554" ref="tree=MeSH" title="MedGen record for Lynch syndrome">Lynch syndrome</a></span></li><li><span class="TLline"><a href="/medgen/231157" ref="tree=MeSH" title="MedGen record for Muir-Torré syndrome">Muir-Torré syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/353771" ref="tree=MeSH" title="MedGen record for Hereditary leiomyomatosis and renal cell cancer">Hereditary leiomyomatosis and renal cell cancer</a></span></li><li><span class="TLline"><a href="/medgen/1711283" ref="tree=MeSH" title="MedGen record for Hereditary Myelodysplastic Syndrome">Hereditary Myelodysplastic Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1710410" ref="tree=MeSH" title="MedGen record for SAMD9-Associated Hereditary Myelodysplastic Syndrome">SAMD9-Associated Hereditary Myelodysplastic Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1719321" ref="tree=MeSH" title="MedGen record for SAMD9L-Associated Hereditary Myelodysplastic Syndrome">SAMD9L-Associated Hereditary Myelodysplastic Syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/40399" ref="tree=MeSH" title="MedGen record for Hereditary nonpolyposis colorectal neoplasms">Hereditary nonpolyposis colorectal neoplasms</a></span><ul><li><span class="TLline"><a href="/medgen/232603" ref="tree=MeSH" title="MedGen record for Colorectal cancer, hereditary nonpolyposis, type 2">Colorectal cancer, hereditary nonpolyposis, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/313270" ref="tree=MeSH" title="MedGen record for Hereditary pheochromocytoma-paraganglioma">Hereditary pheochromocytoma-paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/488134" ref="tree=MeSH" title="MedGen record for Paragangliomas 1">Paragangliomas 1</a></span><ul><li><span class="TLline"><a href="/medgen/358258" ref="tree=MeSH" title="MedGen record for Paragangliomas with sensorineural hearing loss">Paragangliomas with sensorineural hearing loss</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/357076" ref="tree=MeSH" title="MedGen record for Paragangliomas 2">Paragangliomas 2</a></span></li><li><span class="TLline"><a href="/medgen/340200" ref="tree=MeSH" title="MedGen record for Paragangliomas 3">Paragangliomas 3</a></span></li><li><span class="TLline"><a href="/medgen/349380" ref="tree=MeSH" title="MedGen record for Paragangliomas 4">Paragangliomas 4</a></span></li><li><span class="TLline"><a href="/medgen/481622" ref="tree=MeSH" title="MedGen record for Paragangliomas 5">Paragangliomas 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/155869" ref="tree=MeSH" title="MedGen record for Hereditary retinoblastoma">Hereditary retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/458917" ref="tree=MeSH" title="MedGen record for Inherited bone marrow failure syndrome">Inherited bone marrow failure syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/266045" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia">Diamond-Blackfan anemia</a></span><ul><li><span class="TLline"><a href="/medgen/390966" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 1">Diamond-Blackfan anemia 1</a></span></li><li><span class="TLline"><a href="/medgen/344104" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 2">Diamond-Blackfan anemia 2</a></span></li><li><span class="TLline"><a href="/medgen/387892" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 3">Diamond-Blackfan anemia 3</a></span></li><li><span class="TLline"><a href="/medgen/393906" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 4">Diamond-Blackfan anemia 4</a></span></li><li><span class="TLline"><a href="/medgen/382705" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 5">Diamond-Blackfan anemia 5</a></span></li><li><span class="TLline"><a href="/medgen/419918" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 6">Diamond-Blackfan anemia 6</a></span></li><li><span class="TLline"><a href="/medgen/436451" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 7">Diamond-Blackfan anemia 7</a></span></li><li><span class="TLline"><a href="/medgen/390817" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 8">Diamond-Blackfan anemia 8</a></span></li><li><span class="TLline"><a href="/medgen/412874" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 9">Diamond-Blackfan anemia 9</a></span></li><li><span class="TLline"><a href="/medgen/412873" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 10">Diamond-Blackfan anemia 10</a></span></li><li><span class="TLline"><a href="/medgen/766956" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 11">Diamond-Blackfan anemia 11</a></span></li><li><span class="TLline"><a href="/medgen/816218" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 12">Diamond-Blackfan anemia 12</a></span></li><li><span class="TLline"><a href="/medgen/863078" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 13">Diamond-Blackfan anemia 13</a></span></li><li><span class="TLline"><a href="/medgen/895657" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 14 with mandibulofacial dysostosis">Diamond-Blackfan anemia 14 with mandibulofacial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/902755" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 15 with mandibulofacial dysostosis">Diamond-Blackfan anemia 15 with mandibulofacial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/1385861" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 16">Diamond-Blackfan anemia 16</a></span></li><li><span class="TLline"><a href="/medgen/1373199" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 17">Diamond-Blackfan anemia 17</a></span></li><li><span class="TLline"><a href="/medgen/1681154" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 18">Diamond-Blackfan anemia 18</a></span></li><li><span class="TLline"><a href="/medgen/1683070" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 19">Diamond-Blackfan anemia 19</a></span></li><li><span class="TLline"><a href="/medgen/1674961" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 20">Diamond-Blackfan anemia 20</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41967" ref="tree=MeSH" title="MedGen record for Fanconi anemia">Fanconi anemia</a></span><ul><li><span class="TLline"><a href="/medgen/483333" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group A">Fanconi anemia complementation group A</a></span></li><li><span class="TLline"><a href="/medgen/336901" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group B">Fanconi anemia complementation group B</a></span></li><li><span class="TLline"><a href="/medgen/483324" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group C">Fanconi anemia complementation group C</a></span></li><li><span class="TLline"><a href="/medgen/325420" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group D1">Fanconi anemia complementation group D1</a></span></li><li><span class="TLline"><a href="/medgen/463627" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group D2">Fanconi anemia complementation group D2</a></span></li><li><span class="TLline"><a href="/medgen/463628" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group E">Fanconi anemia complementation group E</a></span></li><li><span class="TLline"><a href="/medgen/854016" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group F">Fanconi anemia complementation group F</a></span></li><li><span class="TLline"><a href="/medgen/854017" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group G">Fanconi anemia complementation group G</a></span></li><li><span class="TLline"><a href="/medgen/323016" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group I">Fanconi anemia complementation group I</a></span></li><li><span class="TLline"><a href="/medgen/323015" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group J">Fanconi anemia complementation group J</a></span></li><li><span class="TLline"><a href="/medgen/854018" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group L">Fanconi anemia complementation group L</a></span></li><li><span class="TLline"><a href="/medgen/372133" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group N">Fanconi anemia complementation group N</a></span></li><li><span class="TLline"><a href="/medgen/462003" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group O">Fanconi anemia complementation group O</a></span></li><li><span class="TLline"><a href="/medgen/854020" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group P">Fanconi anemia complementation group P</a></span></li><li><span class="TLline"><a href="/medgen/854019" ref="tree=MeSH" title="MedGen record for Fanconi anemia, complementation group M">Fanconi anemia, complementation group M</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/182696" ref="tree=MeSH" title="MedGen record for Hypoplastic anemia - familial">Hypoplastic anemia - familial</a></span></li><li><span class="TLline"><a href="/medgen/124418" ref="tree=MeSH" title="MedGen record for Shwachman syndrome">Shwachman syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1640046" ref="tree=MeSH" title="MedGen record for Shwachman-Diamond syndrome 1">Shwachman-Diamond syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1634617" ref="tree=MeSH" title="MedGen record for Shwachman-Diamond syndrome 2">Shwachman-Diamond syndrome 2</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/87518" ref="tree=MeSH" title="MedGen record for Juvenile polyposis syndrome">Juvenile polyposis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/356898" ref="tree=MeSH" title="MedGen record for Generalized juvenile polyposis/juvenile polyposis coli">Generalized juvenile polyposis/juvenile polyposis coli</a></span></li><li><span class="TLline"><a href="/medgen/1778573" ref="tree=MeSH" title="MedGen record for Juvenile polyposis of infancy">Juvenile polyposis of infancy</a></span></li><li><span class="TLline"><a href="/medgen/331400" ref="tree=MeSH" title="MedGen record for Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome">Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1713491" ref="tree=MeSH" title="MedGen record for Kostmann syndrome">Kostmann syndrome</a></span></li><li><span class="TLline"><a href="/medgen/88399" ref="tree=MeSH" title="MedGen record for Li-Fraumeni syndrome">Li-Fraumeni syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/322930" ref="tree=MeSH" title="MedGen record for CHEK2-Associated Li-Fraumeni-Like Syndrome">CHEK2-Associated Li-Fraumeni-Like Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/322656" ref="tree=MeSH" title="MedGen record for Li-Fraumeni syndrome 1">Li-Fraumeni syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1849727" ref="tree=MeSH" title="MedGen record for Li-Fraumeni syndrome 2">Li-Fraumeni syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7437" ref="tree=MeSH" title="MedGen record for Maffucci syndrome">Maffucci syndrome</a></span></li><li><span class="TLline"><a href="/medgen/331890" ref="tree=MeSH" title="MedGen record for Melanoma and neural system tumor syndrome">Melanoma and neural system tumor syndrome</a></span></li><li><span class="TLline"><a href="/medgen/463554" ref="tree=MeSH" title="MedGen record for Melanoma, cutaneous malignant, susceptibility to, 8">Melanoma, cutaneous malignant, susceptibility to, 8</a></span></li><li><span class="TLline"><a href="/medgen/381529" ref="tree=MeSH" title="MedGen record for Monosomy 7 myelodysplasia and leukemia syndrome 1">Monosomy 7 myelodysplasia and leukemia syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/4612" ref="tree=MeSH" title="MedGen record for Multiple congenital exostosis">Multiple congenital exostosis</a></span><ul><li><span class="TLline"><a href="/medgen/377018" ref="tree=MeSH" title="MedGen record for Exostoses, multiple, type 2">Exostoses, multiple, type 2</a></span></li><li><span class="TLline"><a href="/medgen/333090" ref="tree=MeSH" title="MedGen record for Exostoses, multiple, type III">Exostoses, multiple, type III</a></span></li><li><span class="TLline"><a href="/medgen/870708" ref="tree=MeSH" title="MedGen record for Multiple digital exostoses">Multiple digital exostoses</a></span></li><li><span class="TLline"><a href="/medgen/332012" ref="tree=MeSH" title="MedGen record for Multiple long-bone exostoses">Multiple long-bone exostoses</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45036" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia">Multiple endocrine neoplasia</a></span><ul><li><span class="TLline"><a href="/medgen/373469" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia type 4">Multiple endocrine neoplasia type 4</a></span></li><li><span class="TLline"><a href="/medgen/9958" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia type 2A">Multiple endocrine neoplasia type 2A</a></span></li><li><span class="TLline"><a href="/medgen/9959" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia type 2B">Multiple endocrine neoplasia type 2B</a></span></li><li><span class="TLline"><a href="/medgen/9957" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia, type 1">Multiple endocrine neoplasia, type 1</a></span></li><li><span class="TLline"><a href="/medgen/887211" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia, type 2">Multiple endocrine neoplasia, type 2</a></span><ul><li><span class="TLline"><a href="/medgen/322311" ref="tree=MeSH" title="MedGen record for Familial medullary thyroid carcinoma">Familial medullary thyroid carcinoma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/83396" ref="tree=MeSH" title="MedGen record for Multiple Self Healing Epithelioma of Ferguson-Smith">Multiple Self Healing Epithelioma of Ferguson-Smith</a></span></li><li><span class="TLline"><a href="/medgen/10221" ref="tree=MeSH" title="MedGen record for Nephroblastoma">Nephroblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/231045" ref="tree=MeSH" title="MedGen record for Adult kidney Wilms tumor">Adult kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/231375" ref="tree=MeSH" title="MedGen record for Anaplastic Kidney Wilms Tumor">Anaplastic Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/83528" ref="tree=MeSH" title="MedGen record for Blastema predominant kidney Wilms tumor">Blastema predominant kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/273129" ref="tree=MeSH" title="MedGen record for Cervical Wilms tumor">Cervical Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/232073" ref="tree=MeSH" title="MedGen record for Childhood kidney Wilms tumor">Childhood kidney Wilms tumor</a></span><ul><li><span class="TLline"><a href="/medgen/220423" ref="tree=MeSH" title="MedGen record for Cystic partially differentiated nephroblastoma">Cystic partially differentiated nephroblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/181980" ref="tree=MeSH" title="MedGen record for Drash syndrome">Drash syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/885368" ref="tree=MeSH" title="MedGen record for Denys-Drash Syndrome, Incomplete">Denys-Drash Syndrome, Incomplete</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/76000" ref="tree=MeSH" title="MedGen record for Epithelial predominant Wilms tumor">Epithelial predominant Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/146190" ref="tree=MeSH" title="MedGen record for Hereditary Wilms tumor">Hereditary Wilms tumor</a></span><ul><li><span class="TLline"><a href="/medgen/447509" ref="tree=MeSH" title="MedGen record for Wilms tumor 1">Wilms tumor 1</a></span></li><li><span class="TLline"><a href="/medgen/854562" ref="tree=MeSH" title="MedGen record for Wilms tumor 2">Wilms tumor 2</a></span></li><li><span class="TLline"><a href="/medgen/349770" ref="tree=MeSH" title="MedGen record for Wilms tumor 3">Wilms tumor 3</a></span></li><li><span class="TLline"><a href="/medgen/318623" ref="tree=MeSH" title="MedGen record for Wilms tumor 4">Wilms tumor 4</a></span></li><li><span class="TLline"><a href="/medgen/316905" ref="tree=MeSH" title="MedGen record for Wilms tumor 5">Wilms tumor 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/989515" ref="tree=MeSH" title="MedGen record for Kidney Wilms tumor">Kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/233696" ref="tree=MeSH" title="MedGen record for Metachronous kidney Wilms tumor">Metachronous kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/76001" ref="tree=MeSH" title="MedGen record for Mixed cell type kidney Wilms tumor">Mixed cell type kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/277434" ref="tree=MeSH" title="MedGen record for Nonanaplastic kidney Wilms tumor">Nonanaplastic kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/275296" ref="tree=MeSH" title="MedGen record for Ovarian Wilms tumor">Ovarian Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/1688293" ref="tree=MeSH" title="MedGen record for Paratesticular Wilms Tumor">Paratesticular Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/1697590" ref="tree=MeSH" title="MedGen record for Prostate Wilms Tumor">Prostate Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/78873" ref="tree=MeSH" title="MedGen record for Recurrent Kidney Wilms Tumor">Recurrent Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/124499" ref="tree=MeSH" title="MedGen record for Stage I Kidney Wilms Tumor">Stage I Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/75860" ref="tree=MeSH" title="MedGen record for Stage II Kidney Wilms Tumor">Stage II Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/124500" ref="tree=MeSH" title="MedGen record for Stage III Kidney Wilms Tumor">Stage III Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/78871" ref="tree=MeSH" title="MedGen record for Stage IV Kidney Wilms Tumor">Stage IV Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/78872" ref="tree=MeSH" title="MedGen record for Stage V Kidney Wilms Tumor">Stage V Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/83529" ref="tree=MeSH" title="MedGen record for Stromal predominant kidney Wilms tumor">Stromal predominant kidney Wilms tumor</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82706" ref="tree=MeSH" title="MedGen record for Neurocutaneous syndrome">Neurocutaneous syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/439" ref="tree=MeSH" title="MedGen record for Ataxia-telangiectasia syndrome">Ataxia-telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1646345" ref="tree=MeSH" title="MedGen record for Linear nevus sebaceous syndrome">Linear nevus sebaceous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/58149" ref="tree=MeSH" title="MedGen record for Neurofibromatosis">Neurofibromatosis</a></span><ul><li><span class="TLline"><a href="/medgen/68621" ref="tree=MeSH" title="MedGen record for Aggravated Neurofibromatosis">Aggravated Neurofibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/18013" ref="tree=MeSH" title="MedGen record for Neurofibromatosis, type 1">Neurofibromatosis, type 1</a></span></li><li><span class="TLline"><a href="/medgen/18014" ref="tree=MeSH" title="MedGen record for Neurofibromatosis, type 2">Neurofibromatosis, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21361" ref="tree=MeSH" title="MedGen record for Sturge-Weber syndrome">Sturge-Weber syndrome</a></span></li><li><span class="TLline"><a href="/medgen/22518" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis syndrome">Tuberous sclerosis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/325000" ref="tree=MeSH" title="MedGen record for Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis">Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/344288" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis 1">Tuberous sclerosis 1</a></span></li><li><span class="TLline"><a href="/medgen/348170" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis 2">Tuberous sclerosis 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42458" ref="tree=MeSH" title="MedGen record for Von Hippel-Lindau syndrome">Von Hippel-Lindau syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/324338" ref="tree=MeSH" title="MedGen record for Palmoplantar keratoderma-esophageal carcinoma syndrome">Palmoplantar keratoderma-esophageal carcinoma syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18404" ref="tree=MeSH" title="MedGen record for Peutz-Jeghers syndrome">Peutz-Jeghers syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1807813" ref="tree=MeSH" title="MedGen record for Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome">Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1687472" ref="tree=MeSH" title="MedGen record for Polymerase proofreading associated polyposis">Polymerase proofreading associated polyposis</a></span></li><li><span class="TLline"><a href="/medgen/863898" ref="tree=MeSH" title="MedGen record for Progeroid features-hepatocellular carcinoma predisposition syndrome">Progeroid features-hepatocellular carcinoma predisposition syndrome</a></span></li><li><span class="TLline"><a href="/medgen/368366" ref="tree=MeSH" title="MedGen record for PTEN hamartoma tumor syndrome">PTEN hamartoma tumor syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/78554" ref="tree=MeSH" title="MedGen record for Bannayan-Riley-Ruvalcaba syndrome">Bannayan-Riley-Ruvalcaba syndrome</a></span></li><li><span class="TLline"><a href="/medgen/833619" ref="tree=MeSH" title="MedGen record for Cowden syndrome 1">Cowden syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/140251" ref="tree=MeSH" title="MedGen record for Lhermitte-Duclos disease">Lhermitte-Duclos disease</a></span></li><li><span class="TLline"><a href="/medgen/356222" ref="tree=MeSH" title="MedGen record for Proteus-like syndrome">Proteus-like syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1637405" ref="tree=MeSH" title="MedGen record for Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome">Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/457750" ref="tree=MeSH" title="MedGen record for Rhabdoid tumor predisposition syndrome">Rhabdoid tumor predisposition syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/322892" ref="tree=MeSH" title="MedGen record for Rhabdoid tumor predisposition syndrome 1">Rhabdoid tumor predisposition syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/413749" ref="tree=MeSH" title="MedGen record for Rhabdoid tumor predisposition syndrome 2">Rhabdoid tumor predisposition syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/95931" ref="tree=MeSH" title="MedGen record for Roberts-SC phocomelia syndrome">Roberts-SC phocomelia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/10819" ref="tree=MeSH" title="MedGen record for Rothmund-Thomson syndrome">Rothmund-Thomson syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1684764" ref="tree=MeSH" title="MedGen record for Rothmund-Thomson syndrome type 1">Rothmund-Thomson syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/1684753" ref="tree=MeSH" title="MedGen record for Rothmund-Thomson syndrome type 2">Rothmund-Thomson syndrome type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/234775" ref="tree=MeSH" title="MedGen record for Schwannomatosis">Schwannomatosis</a></span></li><li><span class="TLline"><a href="/medgen/1799992" ref="tree=MeSH" title="MedGen record for Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome">Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/12147" ref="tree=MeSH" title="MedGen record for Werner syndrome">Werner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/382718" ref="tree=MeSH" title="MedGen record for Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome">Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/21921" ref="tree=MeSH" title="MedGen record for Wiskott-Aldrich syndrome">Wiskott-Aldrich syndrome</a></span></li><li><span class="TLline"><a href="/medgen/65123" ref="tree=MeSH" title="MedGen record for X-linked agammaglobulinemia">X-linked agammaglobulinemia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/30884445">Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Islam MJ,
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Parves MR,
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Mahmud S,
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Tithi FA,
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Reza MA</span><br />
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<span class="medgenPMjournal">Comput Biol Chem</span>
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2019 Jun;80:31-45.
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Epub 2019 Mar 12
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doi: 10.1016/j.compbiolchem.2019.03.004.
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<span class="bold">PMID: </span><a href="/pubmed/30884445" target="_blank">30884445</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29720104">Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang Z,
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Liu S,
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Liu S,
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Wang Y,
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Chen J,
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Wu B</span><br />
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<span class="medgenPMjournal">BMC Med Genet</span>
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2018 May 2;19(1):66.
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doi: 10.1186/s12881-018-0594-9.
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<span class="bold">PMID: </span><a href="/pubmed/29720104" target="_blank">29720104</a><a href="/pmc/articles/PMC5930790" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hereditary%20cancer-predisposing%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
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</div>
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<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
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to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
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<div class="portlet mgSection" id="ID_103">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34201893">From Genetics to Histomolecular Characterization: An Insight into Colorectal Carcinogenesis in Lynch Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lepore Signorile M,
|
||
Disciglio V,
|
||
Di Carlo G,
|
||
Pisani A,
|
||
Simone C,
|
||
Ingravallo G</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Jun 23;22(13)
|
||
doi: 10.3390/ijms22136767.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34201893" target="_blank">34201893</a><a href="/pmc/articles/PMC8268977" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30884445">Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Islam MJ,
|
||
Parves MR,
|
||
Mahmud S,
|
||
Tithi FA,
|
||
Reza MA</span><br />
|
||
<span class="medgenPMjournal">Comput Biol Chem</span>
|
||
2019 Jun;80:31-45.
|
||
Epub 2019 Mar 12
|
||
doi: 10.1016/j.compbiolchem.2019.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30884445" target="_blank">30884445</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29720104">Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Z,
|
||
Liu S,
|
||
Liu S,
|
||
Wang Y,
|
||
Chen J,
|
||
Wu B</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2018 May 2;19(1):66.
|
||
doi: 10.1186/s12881-018-0594-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29720104" target="_blank">29720104</a><a href="/pmc/articles/PMC5930790" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15350297">Challenging pedigrees seen in a hereditary cancer consultation center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lynch HT,
|
||
Tinley ST,
|
||
Lynch JF,
|
||
Attard TM</span><br />
|
||
<span class="medgenPMjournal">Cancer Genet Cytogenet</span>
|
||
2004 Sep;153(2):91-101.
|
||
doi: 10.1016/j.cancergencyto.2004.01.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15350297" target="_blank">15350297</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20cancer-predisposing%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33827469">Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vidal AF,
|
||
Ferraz RS,
|
||
El-Husny A,
|
||
Silva CS,
|
||
Vinasco-Sandoval T,
|
||
Magalhães L,
|
||
Raiol-Moraes M,
|
||
Barra WF,
|
||
Pereira CLBL,
|
||
de Assumpção PP,
|
||
de Brito LM,
|
||
Vialle RA,
|
||
Santos S,
|
||
Ribeiro-Dos-Santos Â,
|
||
Ribeiro-Dos-Santos AM</span><br />
|
||
<span class="medgenPMjournal">BMC Cancer</span>
|
||
2021 Apr 7;21(1):363.
|
||
doi: 10.1186/s12885-021-08089-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33827469" target="_blank">33827469</a><a href="/pmc/articles/PMC8028728" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29720104">Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Z,
|
||
Liu S,
|
||
Liu S,
|
||
Wang Y,
|
||
Chen J,
|
||
Wu B</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2018 May 2;19(1):66.
|
||
doi: 10.1186/s12881-018-0594-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29720104" target="_blank">29720104</a><a href="/pmc/articles/PMC5930790" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15350297">Challenging pedigrees seen in a hereditary cancer consultation center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lynch HT,
|
||
Tinley ST,
|
||
Lynch JF,
|
||
Attard TM</span><br />
|
||
<span class="medgenPMjournal">Cancer Genet Cytogenet</span>
|
||
2004 Sep;153(2):91-101.
|
||
doi: 10.1016/j.cancergencyto.2004.01.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15350297" target="_blank">15350297</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20cancer-predisposing%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35347810">Detection of disease-causing mutations in prostate cancer by NGS sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mangolini A,
|
||
Rocca C,
|
||
Bassi C,
|
||
Ippolito C,
|
||
Negrini M,
|
||
Dell'Atti L,
|
||
Lanza G,
|
||
Gafà R,
|
||
Bianchi N,
|
||
Pinton P,
|
||
Aguiari G</span><br />
|
||
<span class="medgenPMjournal">Cell Biol Int</span>
|
||
2022 Jul;46(7):1047-1061.
|
||
Epub 2022 Apr 6
|
||
doi: 10.1002/cbin.11803.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35347810" target="_blank">35347810</a><a href="/pmc/articles/PMC9320837" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33827469">Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vidal AF,
|
||
Ferraz RS,
|
||
El-Husny A,
|
||
Silva CS,
|
||
Vinasco-Sandoval T,
|
||
Magalhães L,
|
||
Raiol-Moraes M,
|
||
Barra WF,
|
||
Pereira CLBL,
|
||
de Assumpção PP,
|
||
de Brito LM,
|
||
Vialle RA,
|
||
Santos S,
|
||
Ribeiro-Dos-Santos Â,
|
||
Ribeiro-Dos-Santos AM</span><br />
|
||
<span class="medgenPMjournal">BMC Cancer</span>
|
||
2021 Apr 7;21(1):363.
|
||
doi: 10.1186/s12885-021-08089-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33827469" target="_blank">33827469</a><a href="/pmc/articles/PMC8028728" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31278556">NBN Gene Analysis and it's Impact on Breast Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nithya P,
|
||
ChandraSekar A</span><br />
|
||
<span class="medgenPMjournal">J Med Syst</span>
|
||
2019 Jul 5;43(8):270.
|
||
doi: 10.1007/s10916-019-1328-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31278556" target="_blank">31278556</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30884445">Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Islam MJ,
|
||
Parves MR,
|
||
Mahmud S,
|
||
Tithi FA,
|
||
Reza MA</span><br />
|
||
<span class="medgenPMjournal">Comput Biol Chem</span>
|
||
2019 Jun;80:31-45.
|
||
Epub 2019 Mar 12
|
||
doi: 10.1016/j.compbiolchem.2019.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30884445" target="_blank">30884445</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29720104">Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Z,
|
||
Liu S,
|
||
Liu S,
|
||
Wang Y,
|
||
Chen J,
|
||
Wu B</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2018 May 2;19(1):66.
|
||
doi: 10.1186/s12881-018-0594-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29720104" target="_blank">29720104</a><a href="/pmc/articles/PMC5930790" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20cancer-predisposing%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33827469">Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vidal AF,
|
||
Ferraz RS,
|
||
El-Husny A,
|
||
Silva CS,
|
||
Vinasco-Sandoval T,
|
||
Magalhães L,
|
||
Raiol-Moraes M,
|
||
Barra WF,
|
||
Pereira CLBL,
|
||
de Assumpção PP,
|
||
de Brito LM,
|
||
Vialle RA,
|
||
Santos S,
|
||
Ribeiro-Dos-Santos Â,
|
||
Ribeiro-Dos-Santos AM</span><br />
|
||
<span class="medgenPMjournal">BMC Cancer</span>
|
||
2021 Apr 7;21(1):363.
|
||
doi: 10.1186/s12885-021-08089-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33827469" target="_blank">33827469</a><a href="/pmc/articles/PMC8028728" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31278556">NBN Gene Analysis and it's Impact on Breast Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nithya P,
|
||
ChandraSekar A</span><br />
|
||
<span class="medgenPMjournal">J Med Syst</span>
|
||
2019 Jul 5;43(8):270.
|
||
doi: 10.1007/s10916-019-1328-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31278556" target="_blank">31278556</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30884445">Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Islam MJ,
|
||
Parves MR,
|
||
Mahmud S,
|
||
Tithi FA,
|
||
Reza MA</span><br />
|
||
<span class="medgenPMjournal">Comput Biol Chem</span>
|
||
2019 Jun;80:31-45.
|
||
Epub 2019 Mar 12
|
||
doi: 10.1016/j.compbiolchem.2019.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30884445" target="_blank">30884445</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29720104">Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Z,
|
||
Liu S,
|
||
Liu S,
|
||
Wang Y,
|
||
Chen J,
|
||
Wu B</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2018 May 2;19(1):66.
|
||
doi: 10.1186/s12881-018-0594-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29720104" target="_blank">29720104</a><a href="/pmc/articles/PMC5930790" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20cancer-predisposing%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0027672%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (63)</a></li>
|
||
<li><a href="/gtr/tests?term=C0027672%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0027672%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0027672%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0027672%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0027672%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (102)</a></li>
|
||
<li><a href="/gtr/tests?term=C0027672%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0027672%5bDISCUI%5d" target="_blank">See all (109)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=140162" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hereditary%20cancer-predisposing%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hereditary%20cancer-predisposing%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hereditary%20cancer-predisposing%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Hereditary+Cancer/3345" target="_blank">Genetic Alliance</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hereditary%20cancer-predisposing%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/19921/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3e28484f3725e596be9da">Hereditary cancer-predisposing syndrome</a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d3e27c84f3725e596bb1d9">Hereditary leiomyomatosis and renal cell cancer</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d3e27a2f30673f7b271550">Cutaneous leiomyosarcoma</a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d3e27684f3725e596b84de">Cutaneous leiomyoma</a>
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