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<meta name="keywords" content="C2675520, brca2, brca2 hereditary breast and ovarian cancer, brca2 hereditary breast ovarian cancer syndrome, breast cancer, familial, susceptibility to, 2, breast-ovarian cancer, familial 2, breast-ovarian cancer, familial, 2, breast-ovarian cancer, familial, susceptibility to, 2, breast-ovarian cancer, familial, susceptibility to, type 2, brovca2, finding, hboc2, hereditary breast ovarian cancer syndrome caused by mutation in brca2, ovarian cancer, familial, susceptibility to, 2, susceptibility to familial breast-ovarian cancer 2, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. The risk of developing an associated cancer varies depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=382625
|
||
ConceptID=C2675520
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Breast-ovarian cancer, familial, susceptibility to, 2<span class="h1sub">(BROVCA2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382625</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."><span class="highlight" style="background-color:">C2675520</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>BRCA2 Hereditary Breast and Ovarian Cancer; Breast-ovarian cancer, familial 2; BROVCA2</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="BRCA2 - ID: 675 - NCBI Gene" href="/gene/675" class="medgenPMinfo">BRCA2</a> (13q13.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012933" target="_blank">MONDO:0012933</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/612555" target="_blank">612555</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>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1247" target="_blank">BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer</a></div><div>BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. The risk of developing an associated cancer varies depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1247#brca1.Summary" target="NBK1247">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1247#brca1.Diagnosis" target="NBK1247">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1247#brca1.Clinical_Characteristics" target="NBK1247">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1247#brca1.Genetically_Related_Allelic_Disord" target="NBK1247">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1247#brca1.Differential_Diagnosis" target="NBK1247">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1247#brca1.Management" target="NBK1247">Management</a> | <a class="medgenPMinfo" href="/books/NBK1247#brca1.Genetic_Counseling" target="NBK1247">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1247#brca1.Resources" target="NBK1247">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1247#brca1.Molecular_Genetics" target="NBK1247">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1247#brca1.Chapter_Notes" target="NBK1247">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1247#brca1.References" target="NBK1247">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Nancie Petrucelli | Mary B Daly | Tuya Pal <a href="/books/NBK1247" target="NBK1247" title="NCBI Bookshelf: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_181539"><div><strong>Ovarian neoplasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>181539</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.">C0919267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tumor (abnormal growth of tissue) of the ovary.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/181539">Feature record</a> | <a href="/medgen?term=%22Ovarian%20neoplasm%22%5BClinical%20Features%5D%20OR%20181539%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_146260"><div><strong>Breast carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146260</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.">C0678222</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a carcinoma of the breast.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/146260">Feature record</a> | <a href="/medgen?term=%22Breast%20carcinoma%22%5BClinical%20Features%5D%20OR%20146260%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the breast</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_146260" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Breast carcinoma</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_181539" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovarian neoplasm</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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>
|
||
<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1458155[DISCUI]&test_type=Clinical" ref="ncbi_uid=264172">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1458155[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=264172">R</a></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=264172" ref="ncbi_uid=264172">V</a></span></span><span class="TLline"><a href="/medgen/264172" ref="tree=GTR&ncbi_uid=264172&link_uid=264172" title="View MedGen record for 'Breast neoplasm'">Breast neoplasm</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0858252[DISCUI]&test_type=Clinical" ref="ncbi_uid=167809">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=167809" ref="ncbi_uid=167809">V</a></span></span><span class="TLline"><a href="/medgen/167809" ref="tree=GTR&ncbi_uid=167809&link_uid=167809" title="View MedGen record for 'Breast adenocarcinoma'">Breast adenocarcinoma</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0006142[DISCUI]&test_type=Clinical" ref="ncbi_uid=651">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=651" target="_blank" href="/omim/114480">O</a></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=651" ref="ncbi_uid=651">V</a></span></span><span class="TLline"><a href="/medgen/651" ref="tree=GTR&ncbi_uid=651&link_uid=651" title="View MedGen record for 'Malignant tumor of breast'">Malignant tumor of breast</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0346153[DISCUI]&test_type=Clinical" ref="ncbi_uid=87542">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=87542" target="_blank" href="/omim/114480">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1247/" ref="ncbi_uid=87542">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=87542" ref="ncbi_uid=87542">V</a></span></span><span class="TLline"><a href="/medgen/87542" ref="tree=GTR&ncbi_uid=87542&link_uid=87542" title="View MedGen record for 'Familial cancer of breast'">Familial cancer of breast</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0004135[DISCUI]&test_type=Clinical" ref="ncbi_uid=439">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=439" target="_blank" href="/omim/208900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1138%20OR%20NBK26468)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=439">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=439" ref="ncbi_uid=439">V</a></span></span><span class="TLline"><a href="/medgen/439" ref="tree=GTR&ncbi_uid=439&link_uid=439" title="View MedGen record for 'Ataxia-telangiectasia syndrome'">Ataxia-telangiectasia syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4016951[DISCUI]&test_type=Clinical" ref="ncbi_uid=865388">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C4016951[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=865388">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=865388" target="_blank" href="/omim/605882">O</a></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=865388" ref="ncbi_uid=865388">V</a></span></span><span class="TLline"><a href="/medgen/865388" ref="tree=GTR&ncbi_uid=865388&link_uid=865388" title="View MedGen record for 'Breast cancer, early-onset'">Breast cancer, early-onset</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1861906[DISCUI]&test_type=Clinical" ref="ncbi_uid=350535">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1861906[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=350535">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350535" target="_blank" href="/omim/114480">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/350535" ref="tree=GTR&ncbi_uid=350535&link_uid=350535" title="View MedGen record for 'Breast cancer, familial male'">Breast cancer, familial male</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3469522[DISCUI]&test_type=Clinical" ref="ncbi_uid=854012">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3469522[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=854012">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854012" target="_blank" href="/omim/176705">O</a></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=854012" ref="ncbi_uid=854012">V</a></span></span><span class="TLline"><a href="/medgen/854012" ref="tree=GTR&ncbi_uid=854012&link_uid=854012" title="View MedGen record for 'Breast cancer, susceptibility to'">Breast cancer, susceptibility to</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836860[DISCUI]&test_type=Clinical" ref="ncbi_uid=323015">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=323015" target="_blank" href="/omim/605882">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=323015">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=323015" ref="ncbi_uid=323015">V</a></span></span><span class="TLline"><a href="/medgen/323015" ref="tree=GTR&ncbi_uid=323015&link_uid=323015" title="View MedGen record for 'Fanconi anemia complementation group J'">Fanconi anemia complementation group J</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835817[DISCUI]&test_type=Clinical" ref="ncbi_uid=372133">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=372133" target="_blank" href="/omim/610355">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=372133">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=372133" ref="ncbi_uid=372133">V</a></span></span><span class="TLline"><a href="/medgen/372133" ref="tree=GTR&ncbi_uid=372133&link_uid=372133" title="View MedGen record for 'Fanconi anemia complementation group N'">Fanconi anemia complementation group N</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0677776[DISCUI]&test_type=Clinical" ref="ncbi_uid=151793">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1247/" ref="ncbi_uid=151793">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=151793" ref="ncbi_uid=151793">V</a></span></span><span class="TLline"><a href="/medgen/151793" ref="tree=GTR&ncbi_uid=151793&link_uid=151793" title="View MedGen record for 'Hereditary breast ovarian cancer syndrome'">Hereditary breast ovarian cancer syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0085390[DISCUI]&test_type=Clinical" ref="ncbi_uid=88399">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=88399" target="_blank" href="/omim/151623">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1311/" ref="ncbi_uid=88399">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=88399" ref="ncbi_uid=88399">V</a></span></span><span class="TLline"><a href="/medgen/88399" ref="tree=GTR&ncbi_uid=88399&link_uid=88399" title="View MedGen record for 'Li-Fraumeni syndrome'">Li-Fraumeni syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0031269[DISCUI]&test_type=Clinical" ref="ncbi_uid=18404">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18404" target="_blank" href="/omim/175200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1266/" ref="ncbi_uid=18404">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18404" ref="ncbi_uid=18404">V</a></span></span><span class="TLline"><a href="/medgen/18404" ref="tree=GTR&ncbi_uid=18404&link_uid=18404" title="View MedGen record for 'Peutz-Jeghers syndrome'">Peutz-Jeghers syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1959582[DISCUI]&test_type=Clinical" ref="ncbi_uid=368366">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=368366" target="_blank" href="/omim/158350">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1488/" ref="ncbi_uid=368366">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=368366" ref="ncbi_uid=368366">V</a></span></span><span class="TLline"><a href="/medgen/368366" ref="tree=GTR&ncbi_uid=368366&link_uid=368366" title="View MedGen record for 'PTEN hamartoma tumor syndrome'">PTEN hamartoma tumor syndrome</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871338" ref="tree=MeSH" title="MedGen record for Abnormality of the breast">Abnormality of the breast</a></span><ul><li><span class="TLline"><a href="/medgen/1627648" ref="tree=MeSH" title="MedGen record for Abnormal breast morphology">Abnormal breast morphology</a></span><ul><li><span class="TLline"><a href="/medgen/264172" ref="tree=MeSH" title="MedGen record for Breast neoplasm">Breast neoplasm</a></span><ul><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="matched_ds">Breast-ovarian cancer, familial, susceptibility to, 2</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
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</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/37856201">NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Daly MB,
|
||
Pal T,
|
||
Maxwell KN,
|
||
Churpek J,
|
||
Kohlmann W,
|
||
AlHilli Z,
|
||
Arun B,
|
||
Buys SS,
|
||
Cheng H,
|
||
Domchek SM,
|
||
Friedman S,
|
||
Giri V,
|
||
Goggins M,
|
||
Hagemann A,
|
||
Hendrix A,
|
||
Hutton ML,
|
||
Karlan BY,
|
||
Kassem N,
|
||
Khan S,
|
||
Khoury K,
|
||
Kurian AW,
|
||
Laronga C,
|
||
Mak JS,
|
||
Mansour J,
|
||
McDonnell K,
|
||
Menendez CS,
|
||
Merajver SD,
|
||
Norquist BS,
|
||
Offit K,
|
||
Rash D,
|
||
Reiser G,
|
||
Senter-Jamieson L,
|
||
Shannon KM,
|
||
Visvanathan K,
|
||
Welborn J,
|
||
Wick MJ,
|
||
Wood M,
|
||
Yurgelun MB,
|
||
Dwyer MA,
|
||
Darlow SD</span><br />
|
||
<span class="medgenPMjournal">J Natl Compr Canc Netw</span>
|
||
2023 Oct;21(10):1000-1010.
|
||
doi: 10.6004/jnccn.2023.0051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37856201" target="_blank">37856201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33406487">Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daly MB,
|
||
Pal T,
|
||
Berry MP,
|
||
Buys SS,
|
||
Dickson P,
|
||
Domchek SM,
|
||
Elkhanany A,
|
||
Friedman S,
|
||
Goggins M,
|
||
Hutton ML;
|
||
CGC,
|
||
Karlan BY,
|
||
Khan S,
|
||
Klein C,
|
||
Kohlmann W;
|
||
CGC,
|
||
Kurian AW,
|
||
Laronga C,
|
||
Litton JK,
|
||
Mak JS;
|
||
LCGC,
|
||
Menendez CS,
|
||
Merajver SD,
|
||
Norquist BS,
|
||
Offit K,
|
||
Pederson HJ,
|
||
Reiser G;
|
||
CGC,
|
||
Senter-Jamieson L;
|
||
CGC,
|
||
Shannon KM,
|
||
Shatsky R,
|
||
Visvanathan K,
|
||
Weitzel JN,
|
||
Wick MJ,
|
||
Wisinski KB,
|
||
Yurgelun MB,
|
||
Darlow SD,
|
||
Dwyer MA</span><br />
|
||
<span class="medgenPMjournal">J Natl Compr Canc Netw</span>
|
||
2021 Jan 6;19(1):77-102.
|
||
doi: 10.6004/jnccn.2021.0001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33406487" target="_blank">33406487</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31429903">Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">US Preventive Services Task Force,
|
||
Owens DK,
|
||
Davidson KW,
|
||
Krist AH,
|
||
Barry MJ,
|
||
Cabana M,
|
||
Caughey AB,
|
||
Doubeni CA,
|
||
Epling JW Jr,
|
||
Kubik M,
|
||
Landefeld CS,
|
||
Mangione CM,
|
||
Pbert L,
|
||
Silverstein M,
|
||
Simon MA,
|
||
Tseng CW,
|
||
Wong JB</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2019 Aug 20;322(7):652-665.
|
||
doi: 10.1001/jama.2019.10987.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31429903" target="_blank">31429903</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(breast-ovarian%20cancer%2C%20familial%2C%20susceptibility%20to%2C%202)%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 (58)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/cg164" target="_blank">UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf" target="_blank">NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic version 2.2022</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Hereditary-Breast-Ovarian-Cancer.pdf" target="_blank">American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, BRCA1 and BRCA2 Pathogenic Variants (Hereditary Breast and Ovarian Cancer), 2019</a></h3>
|
||
</div>
|
||
</div>
|
||
<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
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31479213" title="PubMed" class="ital">Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force</a> [Internet]</div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nelson HD,
|
||
Pappas M,
|
||
Cantor A,
|
||
Haney E,
|
||
Holmes R,
|
||
Stillman L</span><br />
|
||
Rockville (MD):
|
||
Agency for Healthcare Research and Quality (US); 2019 Aug; <span class="bold">PMID: </span><a href="/pubmed/31479213" target="_blank">31479213</a><a class="PubMedFree" href="/pubmed/31479213" target="_blank">Books & Documents</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24432435" title="PubMed" class="ital">Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Systematic Review to Update the U.S. Preventive Services Task Force Recommendation</a> [Internet]</div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nelson HD,
|
||
Fu R,
|
||
Goddard K,
|
||
Mitchell JP,
|
||
Okinaka-Hu L,
|
||
Pappas M,
|
||
Zakher B</span><br />
|
||
Rockville (MD):
|
||
Agency for Healthcare Research and Quality (US); 2013 Dec; <span class="bold">PMID: </span><a href="/pubmed/24432435" target="_blank">24432435</a><a class="PubMedFree" href="/pubmed/24432435" target="_blank">Books & Documents</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23918944">Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phillips KA,
|
||
Milne RL,
|
||
Rookus MA,
|
||
Daly MB,
|
||
Antoniou AC,
|
||
Peock S,
|
||
Frost D,
|
||
Easton DF,
|
||
Ellis S,
|
||
Friedlander ML,
|
||
Buys SS,
|
||
Andrieu N,
|
||
Noguès C,
|
||
Stoppa-Lyonnet D,
|
||
Bonadona V,
|
||
Pujol P,
|
||
McLachlan SA,
|
||
John EM,
|
||
Hooning MJ,
|
||
Seynaeve C,
|
||
Tollenaar RA,
|
||
Goldgar DE,
|
||
Terry MB,
|
||
Caldes T,
|
||
Weideman PC,
|
||
Andrulis IL,
|
||
Singer CF,
|
||
Birch K,
|
||
Simard J,
|
||
Southey MC,
|
||
Olsson HL,
|
||
Jakubowska A,
|
||
Olah E,
|
||
Gerdes AM,
|
||
Foretova L,
|
||
Hopper JL</span><br />
|
||
<span class="medgenPMjournal">J Clin Oncol</span>
|
||
2013 Sep 1;31(25):3091-9.
|
||
Epub 2013 Aug 5
|
||
doi: 10.1200/JCO.2012.47.8313.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23918944" target="_blank">23918944</a><a href="/pmc/articles/PMC3753701" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20810374">Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Domchek SM,
|
||
Friebel TM,
|
||
Singer CF,
|
||
Evans DG,
|
||
Lynch HT,
|
||
Isaacs C,
|
||
Garber JE,
|
||
Neuhausen SL,
|
||
Matloff E,
|
||
Eeles R,
|
||
Pichert G,
|
||
Van t'veer L,
|
||
Tung N,
|
||
Weitzel JN,
|
||
Couch FJ,
|
||
Rubinstein WS,
|
||
Ganz PA,
|
||
Daly MB,
|
||
Olopade OI,
|
||
Tomlinson G,
|
||
Schildkraut J,
|
||
Blum JL,
|
||
Rebbeck TR</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2010 Sep 1;304(9):967-75.
|
||
doi: 10.1001/jama.2010.1237.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20810374" target="_blank">20810374</a><a href="/pmc/articles/PMC2948529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<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/37856201">NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daly MB,
|
||
Pal T,
|
||
Maxwell KN,
|
||
Churpek J,
|
||
Kohlmann W,
|
||
AlHilli Z,
|
||
Arun B,
|
||
Buys SS,
|
||
Cheng H,
|
||
Domchek SM,
|
||
Friedman S,
|
||
Giri V,
|
||
Goggins M,
|
||
Hagemann A,
|
||
Hendrix A,
|
||
Hutton ML,
|
||
Karlan BY,
|
||
Kassem N,
|
||
Khan S,
|
||
Khoury K,
|
||
Kurian AW,
|
||
Laronga C,
|
||
Mak JS,
|
||
Mansour J,
|
||
McDonnell K,
|
||
Menendez CS,
|
||
Merajver SD,
|
||
Norquist BS,
|
||
Offit K,
|
||
Rash D,
|
||
Reiser G,
|
||
Senter-Jamieson L,
|
||
Shannon KM,
|
||
Visvanathan K,
|
||
Welborn J,
|
||
Wick MJ,
|
||
Wood M,
|
||
Yurgelun MB,
|
||
Dwyer MA,
|
||
Darlow SD</span><br />
|
||
<span class="medgenPMjournal">J Natl Compr Canc Netw</span>
|
||
2023 Oct;21(10):1000-1010.
|
||
doi: 10.6004/jnccn.2023.0051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37856201" target="_blank">37856201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33406487">Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daly MB,
|
||
Pal T,
|
||
Berry MP,
|
||
Buys SS,
|
||
Dickson P,
|
||
Domchek SM,
|
||
Elkhanany A,
|
||
Friedman S,
|
||
Goggins M,
|
||
Hutton ML;
|
||
CGC,
|
||
Karlan BY,
|
||
Khan S,
|
||
Klein C,
|
||
Kohlmann W;
|
||
CGC,
|
||
Kurian AW,
|
||
Laronga C,
|
||
Litton JK,
|
||
Mak JS;
|
||
LCGC,
|
||
Menendez CS,
|
||
Merajver SD,
|
||
Norquist BS,
|
||
Offit K,
|
||
Pederson HJ,
|
||
Reiser G;
|
||
CGC,
|
||
Senter-Jamieson L;
|
||
CGC,
|
||
Shannon KM,
|
||
Shatsky R,
|
||
Visvanathan K,
|
||
Weitzel JN,
|
||
Wick MJ,
|
||
Wisinski KB,
|
||
Yurgelun MB,
|
||
Darlow SD,
|
||
Dwyer MA</span><br />
|
||
<span class="medgenPMjournal">J Natl Compr Canc Netw</span>
|
||
2021 Jan 6;19(1):77-102.
|
||
doi: 10.6004/jnccn.2021.0001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33406487" target="_blank">33406487</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32091409">Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen B,
|
||
Zhang G,
|
||
Li X,
|
||
Ren C,
|
||
Wang Y,
|
||
Li K,
|
||
Mok H,
|
||
Cao L,
|
||
Wen L,
|
||
Jia M,
|
||
Li C,
|
||
Guo L,
|
||
Wei G,
|
||
Lin J,
|
||
Li Y,
|
||
Zhang Y,
|
||
Han-Zhang H,
|
||
Liu J,
|
||
Lizaso A,
|
||
Liao N</span><br />
|
||
<span class="medgenPMjournal">Aging (Albany NY)</span>
|
||
2020 Feb 24;12(4):3140-3155.
|
||
doi: 10.18632/aging.102783.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32091409" target="_blank">32091409</a><a href="/pmc/articles/PMC7066887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27153395">Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maxwell KN,
|
||
Hart SN,
|
||
Vijai J,
|
||
Schrader KA,
|
||
Slavin TP,
|
||
Thomas T,
|
||
Wubbenhorst B,
|
||
Ravichandran V,
|
||
Moore RM,
|
||
Hu C,
|
||
Guidugli L,
|
||
Wenz B,
|
||
Domchek SM,
|
||
Robson ME,
|
||
Szabo C,
|
||
Neuhausen SL,
|
||
Weitzel JN,
|
||
Offit K,
|
||
Couch FJ,
|
||
Nathanson KL</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2016 May 5;98(5):801-817.
|
||
doi: 10.1016/j.ajhg.2016.02.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27153395" target="_blank">27153395</a><a href="/pmc/articles/PMC4863474" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26976419">Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tung N,
|
||
Lin NU,
|
||
Kidd J,
|
||
Allen BA,
|
||
Singh N,
|
||
Wenstrup RJ,
|
||
Hartman AR,
|
||
Winer EP,
|
||
Garber JE</span><br />
|
||
<span class="medgenPMjournal">J Clin Oncol</span>
|
||
2016 May 1;34(13):1460-8.
|
||
Epub 2016 Mar 14
|
||
doi: 10.1200/JCO.2015.65.0747.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26976419" target="_blank">26976419</a><a href="/pmc/articles/PMC4872307" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breast-ovarian%20cancer%2C%20familial%2C%20susceptibility%20to%2C%202%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 (291)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37856201">NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daly MB,
|
||
Pal T,
|
||
Maxwell KN,
|
||
Churpek J,
|
||
Kohlmann W,
|
||
AlHilli Z,
|
||
Arun B,
|
||
Buys SS,
|
||
Cheng H,
|
||
Domchek SM,
|
||
Friedman S,
|
||
Giri V,
|
||
Goggins M,
|
||
Hagemann A,
|
||
Hendrix A,
|
||
Hutton ML,
|
||
Karlan BY,
|
||
Kassem N,
|
||
Khan S,
|
||
Khoury K,
|
||
Kurian AW,
|
||
Laronga C,
|
||
Mak JS,
|
||
Mansour J,
|
||
McDonnell K,
|
||
Menendez CS,
|
||
Merajver SD,
|
||
Norquist BS,
|
||
Offit K,
|
||
Rash D,
|
||
Reiser G,
|
||
Senter-Jamieson L,
|
||
Shannon KM,
|
||
Visvanathan K,
|
||
Welborn J,
|
||
Wick MJ,
|
||
Wood M,
|
||
Yurgelun MB,
|
||
Dwyer MA,
|
||
Darlow SD</span><br />
|
||
<span class="medgenPMjournal">J Natl Compr Canc Netw</span>
|
||
2023 Oct;21(10):1000-1010.
|
||
doi: 10.6004/jnccn.2023.0051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37856201" target="_blank">37856201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33406487">Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daly MB,
|
||
Pal T,
|
||
Berry MP,
|
||
Buys SS,
|
||
Dickson P,
|
||
Domchek SM,
|
||
Elkhanany A,
|
||
Friedman S,
|
||
Goggins M,
|
||
Hutton ML;
|
||
CGC,
|
||
Karlan BY,
|
||
Khan S,
|
||
Klein C,
|
||
Kohlmann W;
|
||
CGC,
|
||
Kurian AW,
|
||
Laronga C,
|
||
Litton JK,
|
||
Mak JS;
|
||
LCGC,
|
||
Menendez CS,
|
||
Merajver SD,
|
||
Norquist BS,
|
||
Offit K,
|
||
Pederson HJ,
|
||
Reiser G;
|
||
CGC,
|
||
Senter-Jamieson L;
|
||
CGC,
|
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Shannon KM,
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<div class="nl"><a target="_blank" href="/pubmed/30306255">Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bonache S,
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<div class="portlet_content ln"><span class="medgenPMauthor">Tung N,
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<div class="nl"><a target="_blank" href="/pubmed/25186627">Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tung N,
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Battelli C,
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Kaldate R,
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Bhatnagar S,
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Bowles K,
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Timms K,
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Garber JE,
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Herold C,
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Ellisen L,
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Krejdovsky J,
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DeLeonardis K,
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Sedgwick K,
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Soltis K,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breast-ovarian%20cancer%2C%20familial%2C%20susceptibility%20to%2C%202%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 (161)</a></div><h3 class="subhead">Therapy</h3>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breast-ovarian%20cancer%2C%20familial%2C%20susceptibility%20to%2C%202%22%20AND%20Therapy%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 (34)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/30883759">Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.</a></div>
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Acedo A,
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<span class="bold">PMID: </span><a href="/pubmed/30883759" target="_blank">30883759</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30306255">Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bonache S,
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Bach V,
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López-Fernández A,
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Mancuso F,
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Caratú G,
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Vivancos A,
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Tuset N,
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Balmaña J,
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Gutiérrez-Enríquez S,
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Diez O</span><br />
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<span class="medgenPMjournal">J Cancer Res Clin Oncol</span>
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2018 Dec;144(12):2495-2513.
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Epub 2018 Oct 10
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doi: 10.1007/s00432-018-2763-9.
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<span class="bold">PMID: </span><a href="/pubmed/30306255" target="_blank">30306255</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26976419">Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tung N,
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Lin NU,
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Kidd J,
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Allen BA,
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Singh N,
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Wenstrup RJ,
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Hartman AR,
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Winer EP,
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Garber JE</span><br />
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<span class="medgenPMjournal">J Clin Oncol</span>
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2016 May 1;34(13):1460-8.
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Epub 2016 Mar 14
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<span class="bold">PMID: </span><a href="/pubmed/26976419" target="_blank">26976419</a><a href="/pmc/articles/PMC4872307" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25186627">Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tung N,
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Battelli C,
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Allen B,
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Kaldate R,
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Bhatnagar S,
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Bowles K,
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Timms K,
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Garber JE,
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Herold C,
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Ellisen L,
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Krejdovsky J,
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DeLeonardis K,
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Sedgwick K,
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Soltis K,
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Roa B,
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Wenstrup RJ,
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Hartman AR</span><br />
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<span class="medgenPMjournal">Cancer</span>
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2015 Jan 1;121(1):25-33.
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Epub 2014 Sep 3
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doi: 10.1002/cncr.29010.
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<span class="bold">PMID: </span><a href="/pubmed/25186627" target="_blank">25186627</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breast-ovarian%20cancer%2C%20familial%2C%20susceptibility%20to%2C%202%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 (111)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/30883759">Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fraile-Bethencourt E,
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Valenzuela-Palomo A,
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Díez-Gómez B,
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Goina E,
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Acedo A,
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Buratti E,
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Velasco EA</span><br />
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<span class="medgenPMjournal">J Pathol</span>
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2019 Aug;248(4):409-420.
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Epub 2019 Apr 23
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doi: 10.1002/path.5268.
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<span class="bold">PMID: </span><a href="/pubmed/30883759" target="_blank">30883759</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30306255">Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bonache S,
|
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Esteban I,
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Moles-Fernández A,
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Tenés A,
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Duran-Lozano L,
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Montalban G,
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Bach V,
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Carrasco E,
|
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Gadea N,
|
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López-Fernández A,
|
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Torres-Esquius S,
|
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Mancuso F,
|
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Caratú G,
|
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Vivancos A,
|
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Tuset N,
|
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Balmaña J,
|
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Gutiérrez-Enríquez S,
|
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Diez O</span><br />
|
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<span class="medgenPMjournal">J Cancer Res Clin Oncol</span>
|
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2018 Dec;144(12):2495-2513.
|
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Epub 2018 Oct 10
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doi: 10.1007/s00432-018-2763-9.
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<span class="bold">PMID: </span><a href="/pubmed/30306255" target="_blank">30306255</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26976419">Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tung N,
|
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Lin NU,
|
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Kidd J,
|
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Allen BA,
|
||
Singh N,
|
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Wenstrup RJ,
|
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Hartman AR,
|
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Winer EP,
|
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Garber JE</span><br />
|
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<span class="medgenPMjournal">J Clin Oncol</span>
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2016 May 1;34(13):1460-8.
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Epub 2016 Mar 14
|
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doi: 10.1200/JCO.2015.65.0747.
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<span class="bold">PMID: </span><a href="/pubmed/26976419" target="_blank">26976419</a><a href="/pmc/articles/PMC4872307" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/25186627">Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tung N,
|
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Battelli C,
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Allen B,
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Kaldate R,
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Bhatnagar S,
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Bowles K,
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Timms K,
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Garber JE,
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Herold C,
|
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Ellisen L,
|
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Krejdovsky J,
|
||
DeLeonardis K,
|
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Sedgwick K,
|
||
Soltis K,
|
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Roa B,
|
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Wenstrup RJ,
|
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Hartman AR</span><br />
|
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<span class="medgenPMjournal">Cancer</span>
|
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2015 Jan 1;121(1):25-33.
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Epub 2014 Sep 3
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doi: 10.1002/cncr.29010.
|
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<span class="bold">PMID: </span><a href="/pubmed/25186627" target="_blank">25186627</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17935271">Hereditary cancer syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fostira F,
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Thodi G,
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Konstantopoulou I,
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Sandaltzopoulos R,
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Yannoukakos D</span><br />
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2007 Sep;12 Suppl 1:S13-22.
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<span class="bold">PMID: </span><a href="/pubmed/17935271" target="_blank">17935271</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breast-ovarian%20cancer%2C%20familial%2C%20susceptibility%20to%2C%202%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 (141)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/30733081">Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/30733081" target="_blank">30733081</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27906166">Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26980575">A new paradigm of genetic testing for hereditary breast/ovarian cancers.</a></div>
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|
||
<span class="bold">PMID: </span><a href="/pubmed/26980575" target="_blank">26980575</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breast-ovarian%20cancer%2C%20familial%2C%20susceptibility%20to%2C%202%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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</div>
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<div class=" bottom">
|
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</div>
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|
||
</div>
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</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">
|
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<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">
|
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<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=C2675520%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (135)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675520%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675520%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675520%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675520%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675520%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (147)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675520%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (26)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2675520%5bDISCUI%5d" target="_blank">See all (188)</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="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=612555" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Breast-ovarian%20cancer,%20familial,%20susceptibility%20to,%202" 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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(breast-ovarian%20cancer%2C%20familial%2C%20susceptibility%20to%2C%202)%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(%22Breast-ovarian%20cancer%2C%20familial%2C%20susceptibility%20to%2C%202%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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nice.org.uk/guidance/cg164">NICE, 2023</a><div>UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023</div></li><li><a target="_blank" href="https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf">NCCN, 2022</a><div>NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic version 2.2022</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Hereditary-Breast-Ovarian-Cancer.pdf">ACMG ACT, 2019</a><div>American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, BRCA1 and BRCA2 Pathogenic Variants (Hereditary Breast and Ovarian Cancer), 2019</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=600185" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=675[geneid]" target="_blank">View BRCA2 variations in ClinVar</a></li><li><a href="/nuccore/256574794" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=612555" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Breast-ovarian+cancer%2C+familial+2/7866" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/breast_ovarian_cancer_familial_2_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Breast-ovarian%20cancer,%20familial,%20susceptibility%20to,%202" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301425" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Breast-ovarian%20cancer,%20familial,%20susceptibility%20to,%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Breast-ovarian%20cancer,%20familial,%20susceptibility%20to,%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
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||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
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</div>
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<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=382625" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=382625" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2675520[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2675520[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=382625" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=382625" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=382625" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=382625" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=382625" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=382625" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=382625" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
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<div class="portlet_head">
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<div class="portlet_title">
|
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<h3>Recent activity</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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<div id="HTDisplay" class="">
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
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<div class="action">
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
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Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d680f967c23b31e002d7af">Breast-ovarian cancer, familial, susceptibility to, 2</a>
|
||
<div class="ralinkpop offscreen_noflow">Breast-ovarian cancer, familial, susceptibility to, 2<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d680f72f30673f7b484d78">C2675520[conceptid] <span class="number">(1)</span></a>
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||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d680f367c23b31e002b9c8">Homo sapiens breast cancer 2, early onset (BRCA2), RefSeqGene on chromosome 13</a>
|
||
<div class="ralinkpop offscreen_noflow">Homo sapiens breast cancer 2, early onset (BRCA2), RefSeqGene on chromosome 13<div class="brieflinkpopdesc">gi|256574794|ref|NG_012772.1|</div></div>
|
||
<div class="tertiary">Nucleotide</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d680f284f3725e597b92be">675[geneid] <span class="number">(19900)</span></a>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d680f1cde49f3df72b6ddc">(("clinical guidelines"[Resource Type]) OR "practice guideline"[P... <span class="number">(2)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">(("clinical guidelines"[Resource Type]) OR "practice guideline"[Publication Type]) AND ("Breast-ovarian cancer, familial, susceptibility to, 2")<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">Books</div>
|
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</li>
|
||
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<p id="turnOn" class="HTOff">
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
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