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<meta name="keywords" content="C0346153, akt1, atm, bard1, brca1, brca2, breast cancer susceptibility, autosomal dominant, somatic mutation, breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation, breast cancer, familial, breast cancer, familial male, breast cancer, invasive ductal, autosomal dominant, somatic mutation, breast cancer, lobular, somatic, breast cancer, male, susceptibility to, autosomal dominant, somatic mutation, breast cancer, protection against, autosomal dominant, somatic mutation, breast cancer, somatic, breast cancer, susceptibility to, autosomal dominant, somatic mutation, brip1, casp8, cdh1, esr1, familial breast cancer, familial breast carcinoma, familial cancer of breast, familial cancer of the breast, hereditary breast cancer, hereditary breast carcinoma, hmmr, kras, neoplastic process, nqo2, phb1, pik3ca, ppm1d, rad51, rad54l, rb1cc1, slc67a1, tp53, xrcc3, 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=87542
|
||
ConceptID=C0346153
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Familial cancer of breast</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87542</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.">C0346153</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>BREAST CANCER, FAMILIAL; Hereditary breast cancer</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Familial cancer of breast (254843006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_109109"><div><strong>Non-Mendelian inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>109109</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.">C0600599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Genetic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that depends on genetic determinants in more than one gene.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_109109" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Non-Mendelian inheritance</a><span> (Orphanet)</span></div></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">Genes (locations):<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="AKT1 - ID: 207 - NCBI Gene" href="/gene/207" class="medgenPMinfo">AKT1</a> (14q32.33); <a target="_blank" title="ATM - ID: 472 - NCBI Gene" href="/gene/472" class="medgenPMinfo">ATM</a> (11q22.3); <a target="_blank" title="BARD1 - ID: 580 - NCBI Gene" href="/gene/580" class="medgenPMinfo">BARD1</a> (2q35); <a target="_blank" title="BRCA1 - ID: 672 - NCBI Gene" href="/gene/672" class="medgenPMinfo">BRCA1</a> (17q21.31); <a target="_blank" title="BRCA2 - ID: 675 - NCBI Gene" href="/gene/675" class="medgenPMinfo">BRCA2</a> (13q13.1); <a target="_blank" title="BRIP1 - ID: 83990 - NCBI Gene" href="/gene/83990" class="medgenPMinfo">BRIP1</a> (17q23.2); <a target="_blank" title="CASP8 - ID: 841 - NCBI Gene" href="/gene/841" class="medgenPMinfo">CASP8</a> (2q33.1); <a target="_blank" title="CDH1 - ID: 999 - NCBI Gene" href="/gene/999" class="medgenPMinfo">CDH1</a> (16q22.1); <a target="_blank" title="ESR1 - ID: 2099 - NCBI Gene" href="/gene/2099" class="medgenPMinfo">ESR1</a> (6q25.1-25.2); <a target="_blank" title="HMMR - ID: 3161 - NCBI Gene" href="/gene/3161" class="medgenPMinfo">HMMR</a> (5q34); <a target="_blank" title="KRAS - ID: 3845 - NCBI Gene" href="/gene/3845" class="medgenPMinfo">KRAS</a> (12p12.1); <a target="_blank" title="NQO2 - ID: 4835 - NCBI Gene" href="/gene/4835" class="medgenPMinfo">NQO2</a> (6p25.2); <a target="_blank" title="PHB1 - ID: 5245 - NCBI Gene" href="/gene/5245" class="medgenPMinfo">PHB1</a> (17q21.33); <a target="_blank" title="PIK3CA - ID: 5290 - NCBI Gene" href="/gene/5290" class="medgenPMinfo">PIK3CA</a> (3q26.32); <a target="_blank" title="PPM1D - ID: 8493 - NCBI Gene" href="/gene/8493" class="medgenPMinfo">PPM1D</a> (17q23.2); <a target="_blank" title="RAD51 - ID: 5888 - NCBI Gene" href="/gene/5888" class="medgenPMinfo">RAD51</a> (15q15.1); <a target="_blank" title="RAD54L - ID: 8438 - NCBI Gene" href="/gene/8438" class="medgenPMinfo">RAD54L</a> (1p34.1); <a target="_blank" title="RB1CC1 - ID: 9821 - NCBI Gene" href="/gene/9821" class="medgenPMinfo">RB1CC1</a> (8q11.23); <a target="_blank" title="SLC67A1 - ID: 5002 - NCBI Gene" href="/gene/5002" class="medgenPMinfo">SLC67A1</a> (11p15.4); <a target="_blank" title="TP53 - ID: 7157 - NCBI Gene" href="/gene/7157" class="medgenPMinfo">TP53</a> (17p13.1); <a target="_blank" title="XRCC3 - ID: 7517 - NCBI Gene" href="/gene/7517" class="medgenPMinfo">XRCC3</a> (14q32.33)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/79728">PALB2</a>, <a target="_blank" href="/gene/11200">CHEK2</a>, <a target="_blank" href="/gene/6794">STK11</a>, <a target="_blank" href="/gene/5892">RAD51D</a>, <a target="_blank" href="/gene/5889">RAD51C</a>, <a target="_blank" href="/gene/5728">PTEN</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016419" target="_blank">MONDO:0016419</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/114480" target="_blank">114480</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=227535">ORPHA227535</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 />
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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>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. <a target="_blank" href="http://www.omim.org/entry/114480">http://www.omim.org/entry/114480</a></div></div>
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<div class="portlet mgSection" id="ID_102">
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<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>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<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>
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<div class="spaceAbove">The presence of a carcinoma of the breast.</div>
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<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"><ul><li><span class="TLline">Abnormality of the breast</span><ul><li class="TLline">
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<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></ul></div></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="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="matched_ds"><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">Familial cancer of breast</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/146260" ref="tree=MeSH" title="MedGen record for Breast carcinoma">Breast carcinoma</a></span><ul><li><span class="matched_ds">Familial cancer of breast</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/1710970" ref="tree=MeSH" title="MedGen record for BRCA-Associated Breast Carcinoma">BRCA-Associated Breast Carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/1697431" ref="tree=MeSH" title="MedGen record for Metastatic BRCA-Associated Breast Carcinoma">Metastatic BRCA-Associated Breast Carcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/865388" ref="tree=MeSH" title="MedGen record for Breast cancer, early-onset">Breast cancer, early-onset</a></span></li><li><span class="TLline"><a href="/medgen/350535" ref="tree=MeSH" title="MedGen record for Breast cancer, familial male">Breast cancer, familial male</a></span></li><li><span class="TLline"><a href="/medgen/854012" ref="tree=MeSH" title="MedGen record for Breast cancer, susceptibility to">Breast cancer, susceptibility to</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/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/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/272712" ref="tree=MeSH" title="MedGen record for Hereditary Female Breast Carcinoma">Hereditary Female Breast Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/232280" ref="tree=MeSH" title="MedGen record for Hereditary Male Breast Carcinoma">Hereditary Male Breast Carcinoma</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/1716658" ref="tree=MeSH" title="MedGen record for PALB2-Associated Breast Carcinoma">PALB2-Associated Breast Carcinoma</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/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/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/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></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<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>
|
||
<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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29190211">Identification and management of familial breast cancer in Austria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singer CF,
|
||
Tan YY,
|
||
Rappaport C</span><br />
|
||
<span class="medgenPMjournal">Horm Mol Biol Clin Investig</span>
|
||
2017 Nov 30;32(2)
|
||
doi: 10.1515/hmbci-2017-0025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29190211" target="_blank">29190211</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22336791">Cancer genetic risk assessment for individuals at risk of familial breast cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hilgart JS,
|
||
Coles B,
|
||
Iredale R</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2012 Feb 15;2012(2):CD003721.
|
||
doi: 10.1002/14651858.CD003721.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22336791" target="_blank">22336791</a><a href="/pmc/articles/PMC7154385" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18326163">Cancer genetic risk assessment for individuals at risk of familial breast cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guirguis-Blake J</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2008 Feb 15;77(4):449-50.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18326163" target="_blank">18326163</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22familial%20cancer%20of%20breast%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 (21)</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/ng101" target="_blank">UK NICE Guideline NG101, Early and locally advanced breast cancer: diagnosis and management, 2024</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/guidelines/guidelines-detail?category=1&id=1419" target="_blank">Breast Cancer, NCCN Guidelines Version 4.2022</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/26389258">Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389258" target="_blank">26389258</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389210">Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389210" target="_blank">26389210</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/36480783">BRCA-CRisk: A Contralateral Breast Cancer Risk Prediction Model for BRCA Carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun J,
|
||
Chu F,
|
||
Pan J,
|
||
Zhang Y,
|
||
Yao L,
|
||
Chen J,
|
||
Hu L,
|
||
Zhang J,
|
||
Xu Y,
|
||
Wang X,
|
||
Cao W,
|
||
Xie Y</span><br />
|
||
<span class="medgenPMjournal">J Clin Oncol</span>
|
||
2023 Feb 10;41(5):991-999.
|
||
Epub 2022 Dec 8
|
||
doi: 10.1200/JCO.22.00833.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36480783" target="_blank">36480783</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30659696">Contrast-enhanced MRI for breast cancer screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mann RM,
|
||
Kuhl CK,
|
||
Moy L</span><br />
|
||
<span class="medgenPMjournal">J Magn Reson Imaging</span>
|
||
2019 Aug;50(2):377-390.
|
||
Epub 2019 Jan 18
|
||
doi: 10.1002/jmri.26654.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30659696" target="_blank">30659696</a><a href="/pmc/articles/PMC6767440" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29635390">RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA-mutated breast cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cruz C,
|
||
Castroviejo-Bermejo M,
|
||
Gutiérrez-Enríquez S,
|
||
Llop-Guevara A,
|
||
Ibrahim YH,
|
||
Gris-Oliver A,
|
||
Bonache S,
|
||
Morancho B,
|
||
Bruna A,
|
||
Rueda OM,
|
||
Lai Z,
|
||
Polanska UM,
|
||
Jones GN,
|
||
Kristel P,
|
||
de Bustos L,
|
||
Guzman M,
|
||
Rodríguez O,
|
||
Grueso J,
|
||
Montalban G,
|
||
Caratú G,
|
||
Mancuso F,
|
||
Fasani R,
|
||
Jiménez J,
|
||
Howat WJ,
|
||
Dougherty B,
|
||
Vivancos A,
|
||
Nuciforo P,
|
||
Serres-Créixams X,
|
||
Rubio IT,
|
||
Oaknin A,
|
||
Cadogan E,
|
||
Barrett JC,
|
||
Caldas C,
|
||
Baselga J,
|
||
Saura C,
|
||
Cortés J,
|
||
Arribas J,
|
||
Jonkers J,
|
||
Díez O,
|
||
O'Connor MJ,
|
||
Balmaña J,
|
||
Serra V</span><br />
|
||
<span class="medgenPMjournal">Ann Oncol</span>
|
||
2018 May 1;29(5):1203-1210.
|
||
doi: 10.1093/annonc/mdy099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29635390" target="_blank">29635390</a><a href="/pmc/articles/PMC5961353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26960971">Estimating cumulative risks for breast cancer for carriers of variants in uncommon genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindor NM,
|
||
Hopper J,
|
||
Dowty J</span><br />
|
||
<span class="medgenPMjournal">Fam Cancer</span>
|
||
2016 Jul;15(3):367-70.
|
||
doi: 10.1007/s10689-016-9896-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26960971" target="_blank">26960971</a><a href="/pmc/articles/PMC4901094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26757170">Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation Statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siu AL;
|
||
U.S. Preventive Services Task Force</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
2016 Feb 16;164(4):279-96.
|
||
Epub 2016 Jan 12
|
||
doi: 10.7326/M15-2886.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26757170" target="_blank">26757170</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cancer%20of%20breast%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 (3695)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30659696">Contrast-enhanced MRI for breast cancer screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mann RM,
|
||
Kuhl CK,
|
||
Moy L</span><br />
|
||
<span class="medgenPMjournal">J Magn Reson Imaging</span>
|
||
2019 Aug;50(2):377-390.
|
||
Epub 2019 Jan 18
|
||
doi: 10.1002/jmri.26654.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30659696" target="_blank">30659696</a><a href="/pmc/articles/PMC6767440" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30156052">Breast cancer in adolescents and young adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson RH,
|
||
Anders CK,
|
||
Litton JK,
|
||
Ruddy KJ,
|
||
Bleyer A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2018 Dec;65(12):e27397.
|
||
Epub 2018 Aug 28
|
||
doi: 10.1002/pbc.27397.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30156052" target="_blank">30156052</a><a href="/pmc/articles/PMC6192832" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26960971">Estimating cumulative risks for breast cancer for carriers of variants in uncommon genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindor NM,
|
||
Hopper J,
|
||
Dowty J</span><br />
|
||
<span class="medgenPMjournal">Fam Cancer</span>
|
||
2016 Jul;15(3):367-70.
|
||
doi: 10.1007/s10689-016-9896-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26960971" target="_blank">26960971</a><a href="/pmc/articles/PMC4901094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26757170">Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation Statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siu AL;
|
||
U.S. Preventive Services Task Force</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
2016 Feb 16;164(4):279-96.
|
||
Epub 2016 Jan 12
|
||
doi: 10.7326/M15-2886.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26757170" target="_blank">26757170</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26746459">Familial Risk and Heritability of Cancer Among Twins in Nordic Countries.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mucci LA,
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Hjelmborg JB,
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Harris JR,
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Czene K,
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Havelick DJ,
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Scheike T,
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Graff RE,
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Holst K,
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Möller S,
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Unger RH,
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McIntosh C,
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Nuttall E,
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Brandt I,
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Penney KL,
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Hartman M,
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Kraft P,
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Parmigiani G,
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Christensen K,
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Koskenvuo M,
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Holm NV,
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Heikkilä K,
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Pukkala E,
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Skytthe A,
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Adami HO,
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Kaprio J;
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<span class="bold">PMID: </span><a href="/pubmed/26746459" target="_blank">26746459</a><a href="/pmc/articles/PMC5498110" 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=%22Familial%20cancer%20of%20breast%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 (2073)</a></div><h3 class="subhead">Therapy</h3>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cancer%20of%20breast%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 (580)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/28578505">Family history and risk of breast cancer: an analysis accounting for family structure.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brewer HR,
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Jones ME,
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Schoemaker MJ,
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Ashworth A,
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<span class="bold">PMID: </span><a href="/pubmed/28578505" target="_blank">28578505</a><a href="/pmc/articles/PMC5511313" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26757170">Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation Statement.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Siu AL;
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<div class="nl"><a target="_blank" href="/pubmed/26746459">Familial Risk and Heritability of Cancer Among Twins in Nordic Countries.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mucci LA,
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Hjelmborg JB,
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Harris JR,
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Czene K,
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Havelick DJ,
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Scheike T,
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Graff RE,
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Holst K,
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Möller S,
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Unger RH,
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McIntosh C,
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Nuttall E,
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Brandt I,
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Penney KL,
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Hartman M,
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Kraft P,
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Parmigiani G,
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Christensen K,
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Koskenvuo M,
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Holm NV,
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Heikkilä K,
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Pukkala E,
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Skytthe A,
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Adami HO,
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Kaprio J;
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Nordic Twin Study of Cancer (NorTwinCan) Collaboration</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/26746459" target="_blank">26746459</a><a href="/pmc/articles/PMC5498110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/16451772">Genetic/familial high-risk assessment: breast and ovarian.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cancer%20of%20breast%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 (1393)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37095519">Modifiable risk factors in women at high risk of breast cancer: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cohen SY,
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Stoll CR,
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<span class="bold">PMID: </span><a href="/pubmed/37095519" target="_blank">37095519</a><a href="/pmc/articles/PMC10123992" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30659696">Contrast-enhanced MRI for breast cancer screening.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mann RM,
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Kuhl CK,
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Moy L</span><br />
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<span class="medgenPMjournal">J Magn Reson Imaging</span>
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2019 Aug;50(2):377-390.
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Epub 2019 Jan 18
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doi: 10.1002/jmri.26654.
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<span class="bold">PMID: </span><a href="/pubmed/30659696" target="_blank">30659696</a><a href="/pmc/articles/PMC6767440" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28578505">Family history and risk of breast cancer: an analysis accounting for family structure.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brewer HR,
|
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Jones ME,
|
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Schoemaker MJ,
|
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Ashworth A,
|
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Swerdlow AJ</span><br />
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<span class="medgenPMjournal">Breast Cancer Res Treat</span>
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2017 Aug;165(1):193-200.
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Epub 2017 Jun 3
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doi: 10.1007/s10549-017-4325-2.
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<span class="bold">PMID: </span><a href="/pubmed/28578505" target="_blank">28578505</a><a href="/pmc/articles/PMC5511313" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26746459">Familial Risk and Heritability of Cancer Among Twins in Nordic Countries.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mucci LA,
|
||
Hjelmborg JB,
|
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Harris JR,
|
||
Czene K,
|
||
Havelick DJ,
|
||
Scheike T,
|
||
Graff RE,
|
||
Holst K,
|
||
Möller S,
|
||
Unger RH,
|
||
McIntosh C,
|
||
Nuttall E,
|
||
Brandt I,
|
||
Penney KL,
|
||
Hartman M,
|
||
Kraft P,
|
||
Parmigiani G,
|
||
Christensen K,
|
||
Koskenvuo M,
|
||
Holm NV,
|
||
Heikkilä K,
|
||
Pukkala E,
|
||
Skytthe A,
|
||
Adami HO,
|
||
Kaprio J;
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Nordic Twin Study of Cancer (NorTwinCan) Collaboration</span><br />
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<span class="medgenPMjournal">JAMA</span>
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2016 Jan 5;315(1):68-76.
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doi: 10.1001/jama.2015.17703.
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<span class="bold">PMID: </span><a href="/pubmed/26746459" target="_blank">26746459</a><a href="/pmc/articles/PMC5498110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26182300">Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/26182300" target="_blank">26182300</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cancer%20of%20breast%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 (1644)</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/37095519">Modifiable risk factors in women at high risk of breast cancer: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen SY,
|
||
Stoll CR,
|
||
Anandarajah A,
|
||
Doering M,
|
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Colditz GA</span><br />
|
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<span class="medgenPMjournal">Breast Cancer Res</span>
|
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2023 Apr 24;25(1):45.
|
||
doi: 10.1186/s13058-023-01636-1.
|
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<span class="bold">PMID: </span><a href="/pubmed/37095519" target="_blank">37095519</a><a href="/pmc/articles/PMC10123992" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31990981">Levonorgestrel-releasing intrauterine system and breast cancer risk: A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Conz L,
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Mota BS,
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Bahamondes L,
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Teixeira Dória M,
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Françoise Mauricette Derchain S,
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Rieira R,
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Sarian LO</span><br />
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<span class="medgenPMjournal">Acta Obstet Gynecol Scand</span>
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<span class="bold">PMID: </span><a href="/pubmed/31990981" target="_blank">31990981</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lima Pessoa E,
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Costa Vilella Dos Reis M,
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Sayuri Yamamoto T,
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Ribeiro Neto M,
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Ferraro O,
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Alves MJ,
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<div class="nl"><a target="_blank" href="/pubmed/26489613">Effect of BRCA2 mutation on familial breast cancer survival: A systematic review and meta-analysis.</a></div>
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Yang J,
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<div class="nl"><a target="_blank" href="/pubmed/20581245">Peutz-Jeghers syndrome: a systematic review and recommendations for management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Beggs AD,
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Latchford AR,
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Vasen HF,
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Moslein G,
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Alonso A,
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Aretz S,
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Bertario L,
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Mecklin JP,
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Nagengast FM,
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Parc Y,
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Phillips RK,
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Ponz de Leon M,
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Sampson JR,
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Stormorken A,
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Tejpar S,
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Thomas HJ,
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Wijnen JT,
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Clark SK,
|
||
Hodgson SV</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2010 Jul;59(7):975-86.
|
||
doi: 10.1136/gut.2009.198499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20581245" target="_blank">20581245</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cancer%20of%20breast%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 (67)</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=C0346153%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (262)</a></li>
|
||
<li><a href="/gtr/tests?term=C0346153%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0346153%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0346153%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C0346153%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0346153%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C0346153%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (288)</a></li>
|
||
<li><a href="/gtr/tests?term=C0346153%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (38)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0346153%5bDISCUI%5d" target="_blank">See all (380)</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=114480" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=227535" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Familial%20cancer%20of%20breast" 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=(%22familial%20cancer%20of%20breast%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(%22Familial%20cancer%20of%20breast%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/ng101">NICE, 2024</a><div>UK NICE Guideline NG101, Early and locally advanced breast cancer: diagnosis and management, 2024</div></li><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/guidelines/guidelines-detail?category=1&id=1419">NCCN, 2023</a><div>Breast Cancer, NCCN Guidelines Version 4.2022</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=113705%20133430%20160998%20164730%20171834%20176705%20179617%20190070%20191170%20192090%20600185%20600675%20600936%20601593%20601763%20602631%20603615%20605100%20605882%20606837%20607585" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=207[geneid]" target="_blank">View AKT1 variations in ClinVar</a></li><li><a href="/clinvar/?term=472[geneid]" target="_blank">View ATM variations in ClinVar</a></li><li><a href="/clinvar/?term=580[geneid]" target="_blank">View BARD1 variations in ClinVar</a></li><li><a href="/clinvar/?term=672[geneid]" target="_blank">View BRCA1 variations in ClinVar</a></li><li><a href="/clinvar/?term=675[geneid]" target="_blank">View BRCA2 variations in ClinVar</a></li><li><a href="/clinvar/?term=841[geneid]" target="_blank">View CASP8 variations in ClinVar</a></li><li><a href="/clinvar/?term=999[geneid]" target="_blank">View CDH1 variations in ClinVar</a></li><li><a href="/clinvar/?term=2099[geneid]" target="_blank">View ESR1 variations in ClinVar</a></li><li><a href="/clinvar/?term=3161[geneid]" target="_blank">View HMMR variations in ClinVar</a></li><li><a href="/clinvar/?term=3845[geneid]" target="_blank">View KRAS variations in ClinVar</a></li><li><a href="/clinvar/?term=4835[geneid]" target="_blank">View NQO2 variations in ClinVar</a></li><li><a href="/clinvar/?term=5002[geneid]" target="_blank">View SLC67A1 variations in ClinVar</a></li><li><a href="/clinvar/?term=5245[geneid]" target="_blank">View PHB1 variations in ClinVar</a></li><li><a href="/clinvar/?term=5290[geneid]" target="_blank">View PIK3CA variations in ClinVar</a></li><li><a href="/clinvar/?term=5888[geneid]" target="_blank">View RAD51 variations in ClinVar</a></li><li><a href="/clinvar/?term=7157[geneid]" target="_blank">View TP53 variations in ClinVar</a></li><li><a href="/clinvar/?term=7517[geneid]" target="_blank">View XRCC3 variations in ClinVar</a></li><li><a href="/clinvar/?term=8438[geneid]" target="_blank">View RAD54L variations in ClinVar</a></li><li><a href="/clinvar/?term=8493[geneid]" target="_blank">View PPM1D variations in ClinVar</a></li><li><a href="/clinvar/?term=9821[geneid]" target="_blank">View RB1CC1 variations in ClinVar</a></li><li><a href="/clinvar/?term=83990[geneid]" target="_blank">View BRIP1 variations in ClinVar</a></li><li><a href="/nuccore/171460919,176866166,190341080,201023303,223972698,224809348,224809356,237820658,237858600,237858742,237858758,237874257,256574794,262359905,263191928,293651587,299473774,300116258,300192934,302129717" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=114480" 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/Familial+cancer+of+breast/8375" target="_blank">Genetic Alliance</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Familial%20cancer%20of%20breast" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17142/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</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=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Familial%20cancer%20of%20breast" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=4" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Familial%20cancer%20of%20breast%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=4" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/18163131" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=4&linkpostotal=4" target="_blank">Stratton and Rahman, 2008</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<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>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=87542" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=87542" ref="log$=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=C0346153[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0346153[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=87542" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=87542" ref="log$=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=87542" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=87542" ref="log$=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=87542" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=87542" ref="log$=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=87542" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=87542" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<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>
|
||
</div>
|
||
<div class="portlet_content">
|
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<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<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">
|
||
Clear
|
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</a>
|
||
<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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</a>
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