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<meta name="keywords" content="C1333600, familial cancer, familial malignant neoplasm, hereditary cancer, hereditary malignant neoplasm, neoplastic process, 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="Malignant neoplasms occurring in families at a rate greater than that expected by chance and caused by germline mutations in a specific gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=232504
ConceptID=C1333600
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary cancer</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>232504</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)&#10;Click for more information.">C1333600</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Familial Cancer; Familial Malignant Neoplasm; Hereditary Cancer; Hereditary Malignant Neoplasm</td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Malignant neoplasms occurring in families at a rate greater than that expected by chance and caused by germline mutations in a specific gene. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1333600[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=232504">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&amp;from_uid=232504" ref="ncbi_uid=232504">V</a></span></span><span class="TLline">Hereditary cancer</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/10294" ref="tree=MeSH" title="MedGen record for Neoplasm">Neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/14297" ref="tree=MeSH" title="MedGen record for Malignant neoplastic disease">Malignant neoplastic disease</a></span><ul><li><span class="matched_ds">Hereditary cancer</span><ul><li><span class="TLline"><a href="/medgen/1710602" ref="tree=MeSH" title="MedGen record for BRCA-Associated Malignant Neoplasm">BRCA-Associated Malignant Neoplasm</a></span><ul><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/1635506" ref="tree=MeSH" title="MedGen record for BRCA-Associated Ovarian Carcinoma">BRCA-Associated Ovarian Carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/1637849" ref="tree=MeSH" title="MedGen record for Recurrent BRCA- Associated Ovarian Carcinoma">Recurrent BRCA- Associated Ovarian Carcinoma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/87542" ref="tree=MeSH" title="MedGen record for Familial cancer of breast">Familial cancer of breast</a></span><ul><li><span class="TLline"><a href="/medgen/439" ref="tree=MeSH" title="MedGen record for Ataxia-telangiectasia syndrome">Ataxia-telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/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></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/39008" ref="tree=MeSH" title="MedGen record for Proteus syndrome">Proteus syndrome</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><li><span class="TLline"><a href="/medgen/322311" ref="tree=MeSH" title="MedGen record for Familial medullary thyroid carcinoma">Familial medullary thyroid carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/1756444" ref="tree=MeSH" title="MedGen record for Recurrent Hereditary Thyroid Gland Medullary Carcinoma">Recurrent Hereditary Thyroid Gland Medullary Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1764319" ref="tree=MeSH" title="MedGen record for Unresectable Hereditary Thyroid Gland Medullary Carcinoma">Unresectable Hereditary Thyroid Gland Medullary Carcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/268851" ref="tree=MeSH" title="MedGen record for Familial melanoma">Familial melanoma</a></span><ul><li><span class="TLline"><a href="/medgen/924394" ref="tree=MeSH" title="MedGen record for Cutaneous Malignant Melanoma 2">Cutaneous Malignant Melanoma 2</a></span></li><li><span class="TLline"><a href="/medgen/320506" ref="tree=MeSH" title="MedGen record for Melanoma, cutaneous malignant, susceptibility to, 1">Melanoma, cutaneous malignant, susceptibility to, 1</a></span></li><li><span class="TLline"><a href="/medgen/331891" ref="tree=MeSH" title="MedGen record for Melanoma, cutaneous malignant, susceptibility to, 2">Melanoma, cutaneous malignant, susceptibility to, 2</a></span></li><li><span class="TLline"><a href="/medgen/373202" ref="tree=MeSH" title="MedGen record for Melanoma, cutaneous malignant, susceptibility to, 3">Melanoma, cutaneous malignant, susceptibility to, 3</a></span></li><li><span class="TLline"><a href="/medgen/334129" ref="tree=MeSH" title="MedGen record for Melanoma, cutaneous malignant, susceptibility to, 4">Melanoma, cutaneous malignant, susceptibility to, 4</a></span></li><li><span class="TLline"><a href="/medgen/416516" ref="tree=MeSH" title="MedGen record for Melanoma, cutaneous malignant, susceptibility to, 5">Melanoma, cutaneous malignant, susceptibility to, 5</a></span></li><li><span class="TLline"><a href="/medgen/462767" ref="tree=MeSH" title="MedGen record for Melanoma, cutaneous malignant, susceptibility to, 6">Melanoma, cutaneous malignant, susceptibility to, 6</a></span></li><li><span class="TLline"><a href="/medgen/394200" ref="tree=MeSH" title="MedGen record for Melanoma, cutaneous malignant, susceptibility to, 7">Melanoma, cutaneous malignant, susceptibility to, 7</a></span></li><li><span class="TLline"><a href="/medgen/463554" ref="tree=MeSH" title="MedGen record for Melanoma, cutaneous malignant, susceptibility to, 8">Melanoma, cutaneous malignant, susceptibility to, 8</a></span></li><li><span class="TLline"><a href="/medgen/767488" ref="tree=MeSH" title="MedGen record for Melanoma, cutaneous malignant, susceptibility to, 9">Melanoma, cutaneous malignant, susceptibility to, 9</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/272713" ref="tree=MeSH" title="MedGen record for Familial ovarian carcinoma">Familial ovarian carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/419700" ref="tree=MeSH" title="MedGen record for Familial pancreatic carcinoma">Familial pancreatic carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1667326" ref="tree=MeSH" title="MedGen record for Familial prostate carcinoma">Familial prostate carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/422439" ref="tree=MeSH" title="MedGen record for Familial Waldenstrom Macroglobulinemia">Familial Waldenstrom Macroglobulinemia</a></span></li><li><span class="TLline"><a href="/medgen/1372291" ref="tree=MeSH" title="MedGen record for Hematologic Neoplasm with Germline Predisposition">Hematologic Neoplasm with Germline Predisposition</a></span><ul><li><span class="TLline"><a href="/medgen/1657507" ref="tree=MeSH" title="MedGen record for Hematologic Neoplasm with Germline Predisposition Associated with a Constitutional Disorder Affecting Multiple Organ Systems">Hematologic Neoplasm with Germline Predisposition Associated with a Constitutional Disorder Affecting Multiple Organ Systems</a></span><ul><li><span class="TLline"><a href="/medgen/1652884" ref="tree=MeSH" title="MedGen record for Hematologic Neoplasm with Germline GATA2 Mutation">Hematologic Neoplasm with Germline GATA2 Mutation</a></span></li><li><span class="TLline"><a href="/medgen/1670582" ref="tree=MeSH" title="MedGen record for Hematologic Neoplasm with Germline Predisposition Associated with Inherited Bone Marrow Failure Syndrome">Hematologic Neoplasm with Germline Predisposition Associated with Inherited Bone Marrow Failure Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1658514" ref="tree=MeSH" title="MedGen record for Hematologic Neoplasm with Germline Predisposition Associated with Telomerase Biology Disorder">Hematologic Neoplasm with Germline Predisposition Associated with Telomerase Biology Disorder</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1654740" ref="tree=MeSH" title="MedGen record for Hematologic Neoplasm with Germline Predisposition Associated with a Constitutional Platelet Disorder">Hematologic Neoplasm with Germline Predisposition Associated with a Constitutional Platelet Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1659271" ref="tree=MeSH" title="MedGen record for Hematologic Neoplasm with Germline ANKRD26 Mutation">Hematologic Neoplasm with Germline ANKRD26 Mutation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1667264" ref="tree=MeSH" title="MedGen record for Hematologic Neoplasm with Germline Predisposition without a Constitutional Disorder Affecting Multiple Organ Systems">Hematologic Neoplasm with Germline Predisposition without a Constitutional Disorder Affecting Multiple Organ Systems</a></span><ul><li><span class="TLline"><a href="/medgen/777990" ref="tree=MeSH" title="MedGen record for Acute Myeloid Leukemia with Germline CEBPA Mutation">Acute Myeloid Leukemia with Germline CEBPA Mutation</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1717725" ref="tree=MeSH" title="MedGen record for Hereditary Colon Carcinoma">Hereditary Colon Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/307556" ref="tree=MeSH" title="MedGen record for Hereditary fallopian tube carcinoma">Hereditary fallopian tube carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1655189" ref="tree=MeSH" title="MedGen record for Hereditary Gastric Diffuse Adenocarcinoma">Hereditary Gastric Diffuse Adenocarcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1650763" ref="tree=MeSH" title="MedGen record for Hereditary Malignant Urinary System Neoplasm">Hereditary Malignant Urinary System Neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/392857" ref="tree=MeSH" title="MedGen record for Hereditary renal cell carcinoma">Hereditary renal cell carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/234343" ref="tree=MeSH" title="MedGen record for Hereditary clear cell renal cell carcinoma">Hereditary clear cell renal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/353771" ref="tree=MeSH" title="MedGen record for Hereditary leiomyomatosis and renal cell cancer">Hereditary leiomyomatosis and renal cell cancer</a></span></li><li><span class="TLline"><a href="/medgen/163907" ref="tree=MeSH" title="MedGen record for Hereditary papillary renal cell carcinoma">Hereditary papillary renal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/271100" ref="tree=MeSH" title="MedGen record for Renal Cell Carcinoma with Constitutional Chromosome 3 Translocations">Renal Cell Carcinoma with Constitutional Chromosome 3 Translocations</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/146190" ref="tree=MeSH" title="MedGen record for Hereditary Wilms tumor">Hereditary Wilms tumor</a></span><ul><li><span class="TLline"><a href="/medgen/447509" ref="tree=MeSH" title="MedGen record for Wilms tumor 1">Wilms tumor 1</a></span></li><li><span class="TLline"><a href="/medgen/854562" ref="tree=MeSH" title="MedGen record for Wilms tumor 2">Wilms tumor 2</a></span></li><li><span class="TLline"><a href="/medgen/349770" ref="tree=MeSH" title="MedGen record for Wilms tumor 3">Wilms tumor 3</a></span></li><li><span class="TLline"><a href="/medgen/318623" ref="tree=MeSH" title="MedGen record for Wilms tumor 4">Wilms tumor 4</a></span></li><li><span class="TLline"><a href="/medgen/316905" ref="tree=MeSH" title="MedGen record for Wilms tumor 5">Wilms tumor 5</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1711283" ref="tree=MeSH" title="MedGen record for Hereditary Myelodysplastic Syndrome">Hereditary Myelodysplastic Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1710410" ref="tree=MeSH" title="MedGen record for SAMD9-Associated Hereditary Myelodysplastic Syndrome">SAMD9-Associated Hereditary Myelodysplastic Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1719321" ref="tree=MeSH" title="MedGen record for SAMD9L-Associated Hereditary Myelodysplastic Syndrome">SAMD9L-Associated Hereditary Myelodysplastic Syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/858749" ref="tree=MeSH" title="MedGen record for Hereditary Neuroblastoma">Hereditary Neuroblastoma</a></span></li><li><span class="TLline"><a href="/medgen/155869" ref="tree=MeSH" title="MedGen record for Hereditary retinoblastoma">Hereditary retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/1780340" ref="tree=MeSH" title="MedGen record for PALB2-Associated Malignant Neoplasm">PALB2-Associated Malignant Neoplasm</a></span></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/37934933">Chatbot Artificial Intelligence for Genetic Cancer Risk Assessment and Counseling: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Webster EM,
Ahsan MD,
Perez L,
Levi SR,
Thomas C,
Christos P,
Hickner A,
Hamilton JG,
Babagbemi K,
Cantillo E,
Holcomb K,
Chapman-Davis E,
Sharaf RN,
Frey MK</span><br />
<span class="medgenPMjournal">JCO Clin Cancer Inform</span>
2023 Sep;7:e2300123.
doi: 10.1200/CCI.23.00123.
<span class="bold">PMID: </span><a href="/pubmed/37934933" target="_blank">37934933</a><a href="/pmc/articles/PMC10730073" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34666312">NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2021.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss JM,
Gupta S,
Burke CA,
Axell L,
Chen LM,
Chung DC,
Clayback KM,
Dallas S,
Felder S,
Gbolahan O,
Giardiello FM,
Grady W,
Hall MJ,
Hampel H,
Hodan R,
Idos G,
Kanth P,
Katona B,
Lamps L,
Llor X,
Lynch PM,
Markowitz AJ,
Pirzadeh-Miller S,
Samadder NJ,
Shibata D,
Swanson BJ,
Szymaniak BM,
Wiesner GL,
Wolf A,
Yurgelun MB,
Zakhour M,
Darlow SD,
Dwyer MA,
Campbell M</span><br />
<span class="medgenPMjournal">J Natl Compr Canc Netw</span>
2021 Oct 15;19(10):1122-1132.
doi: 10.1164/jnccn.2021.0048.
<span class="bold">PMID: </span><a href="/pubmed/34666312" target="_blank">34666312</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11739416">Guidelines for diagnosis and therapy of MEN type 1 and type 2.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brandi ML,
Gagel RF,
Angeli A,
Bilezikian JP,
Beck-Peccoz P,
Bordi C,
Conte-Devolx B,
Falchetti A,
Gheri RG,
Libroia A,
Lips CJ,
Lombardi G,
Mannelli M,
Pacini F,
Ponder BA,
Raue F,
Skogseid B,
Tamburrano G,
Thakker RV,
Thompson NW,
Tomassetti P,
Tonelli F,
Wells SA Jr,
Marx SJ</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2001 Dec;86(12):5658-71.
doi: 10.1210/jcem.86.12.8070.
<span class="bold">PMID: </span><a href="/pubmed/11739416" target="_blank">11739416</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hereditary%20cancer%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 (544)</a></div></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_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/38280747">Pathology of Gastrointestinal Polyposis Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rosty C,
Brosens LAA</span><br />
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
2024 Mar;53(1):179-200.
Epub 2023 Oct 20
doi: 10.1016/j.gtc.2023.09.006.
<span class="bold">PMID: </span><a href="/pubmed/38280747" target="_blank">38280747</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32196004">Young Women With Breast Cancer: Treatment, Care, and Nursing Implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Corey B,
Smania MA,
Spotts H,
Andersen M</span><br />
<span class="medgenPMjournal">Clin J Oncol Nurs</span>
2020 Apr 1;24(2):139-147.
doi: 10.1188/20.CJON.139-147.
<span class="bold">PMID: </span><a href="/pubmed/32196004" target="_blank">32196004</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31409088">DICER1 Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hořínová V,
Drábová K,
Nosková H,
Bajčiová V,
Šoukalová J,
Černá L,
Hůrková V,
Slabý O,
Štěrba J</span><br />
<span class="medgenPMjournal">Klin Onkol</span>
2019 Summer;32(Supplementum2):123-127.
doi: 10.14735/amko2019S123.
<span class="bold">PMID: </span><a href="/pubmed/31409088" target="_blank">31409088</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31159747">Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tsaousis GN,
Papadopoulou E,
Apessos A,
Agiannitopoulos K,
Pepe G,
Kampouri S,
Diamantopoulos N,
Floros T,
Iosifidou R,
Katopodi O,
Koumarianou A,
Markopoulos C,
Papazisis K,
Venizelos V,
Xanthakis I,
Xepapadakis G,
Banu E,
Eniu DT,
Negru S,
Stanculeanu DL,
Ungureanu A,
Ozmen V,
Tansan S,
Tekinel M,
Yalcin S,
Nasioulas G</span><br />
<span class="medgenPMjournal">BMC Cancer</span>
2019 Jun 3;19(1):535.
doi: 10.1186/s12885-019-5756-4.
<span class="bold">PMID: </span><a href="/pubmed/31159747" target="_blank">31159747</a><a href="/pmc/articles/PMC6547505" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30627969">Recent advances in Lynch syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Biller LH,
Syngal S,
Yurgelun MB</span><br />
<span class="medgenPMjournal">Fam Cancer</span>
2019 Apr;18(2):211-219.
doi: 10.1007/s10689-018-00117-1.
<span class="bold">PMID: </span><a href="/pubmed/30627969" target="_blank">30627969</a><a href="/pmc/articles/PMC6450737" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20cancer%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 (2332)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38280747">Pathology of Gastrointestinal Polyposis Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rosty C,
Brosens LAA</span><br />
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
2024 Mar;53(1):179-200.
Epub 2023 Oct 20
doi: 10.1016/j.gtc.2023.09.006.
<span class="bold">PMID: </span><a href="/pubmed/38280747" target="_blank">38280747</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37239385">Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Garutti M,
Foffano L,
Mazzeo R,
Michelotti A,
Da Ros L,
Viel A,
Miolo G,
Zambelli A,
Puglisi F</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Apr 30;14(5)
doi: 10.3390/genes14051025.
<span class="bold">PMID: </span><a href="/pubmed/37239385" target="_blank">37239385</a><a href="/pmc/articles/PMC10218093" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32402295">Cancer Genetics.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Van Cott C</span><br />
<span class="medgenPMjournal">Surg Clin North Am</span>
2020 Jun;100(3):483-498.
Epub 2020 Apr 16
doi: 10.1016/j.suc.2020.02.012.
<span class="bold">PMID: </span><a href="/pubmed/32402295" target="_blank">32402295</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31159747">Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tsaousis GN,
Papadopoulou E,
Apessos A,
Agiannitopoulos K,
Pepe G,
Kampouri S,
Diamantopoulos N,
Floros T,
Iosifidou R,
Katopodi O,
Koumarianou A,
Markopoulos C,
Papazisis K,
Venizelos V,
Xanthakis I,
Xepapadakis G,
Banu E,
Eniu DT,
Negru S,
Stanculeanu DL,
Ungureanu A,
Ozmen V,
Tansan S,
Tekinel M,
Yalcin S,
Nasioulas G</span><br />
<span class="medgenPMjournal">BMC Cancer</span>
2019 Jun 3;19(1):535.
doi: 10.1186/s12885-019-5756-4.
<span class="bold">PMID: </span><a href="/pubmed/31159747" target="_blank">31159747</a><a href="/pmc/articles/PMC6547505" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15639298">Colorectal cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Weitz J,
Koch M,
Debus J,
Höhler T,
Galle PR,
Büchler MW</span><br />
<span class="medgenPMjournal">Lancet</span>
2005 Jan 8-14;365(9454):153-65.
doi: 10.1016/S0140-6736(05)17706-X.
<span class="bold">PMID: </span><a href="/pubmed/15639298" target="_blank">15639298</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20cancer%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 (1680)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/34081848">Adjuvant Olaparib for Patients with BRCA1- or BRCA2-Mutated Breast Cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tutt ANJ,
Garber JE,
Kaufman B,
Viale G,
Fumagalli D,
Rastogi P,
Gelber RD,
de Azambuja E,
Fielding A,
Balmaña J,
Domchek SM,
Gelmon KA,
Hollingsworth SJ,
Korde LA,
Linderholm B,
Bandos H,
Senkus E,
Suga JM,
Shao Z,
Pippas AW,
Nowecki Z,
Huzarski T,
Ganz PA,
Lucas PC,
Baker N,
Loibl S,
McConnell R,
Piccart M,
Schmutzler R,
Steger GG,
Costantino JP,
Arahmani A,
Wolmark N,
McFadden E,
Karantza V,
Lakhani SR,
Yothers G,
Campbell C,
Geyer CE Jr;
OlympiA Clinical Trial Steering Committee and Investigators</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2021 Jun 24;384(25):2394-2405.
Epub 2021 Jun 3
doi: 10.1056/NEJMoa2105215.
<span class="bold">PMID: </span><a href="/pubmed/34081848" target="_blank">34081848</a><a href="/pmc/articles/PMC9126186" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34043773">European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Seppälä TT,
Latchford A,
Negoi I,
Sampaio Soares A,
Jimenez-Rodriguez R,
Sánchez-Guillén L,
Evans DG,
Ryan N,
Crosbie EJ,
Dominguez-Valentin M,
Burn J,
Kloor M,
Knebel Doeberitz MV,
Duijnhoven FJBV,
Quirke P,
Sampson JR,
Møller P,
Möslein G;
European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)</span><br />
<span class="medgenPMjournal">Br J Surg</span>
2021 May 27;108(5):484-498.
doi: 10.1002/bjs.11902.
<span class="bold">PMID: </span><a href="/pubmed/34043773" target="_blank">34043773</a><a href="/pmc/articles/PMC10364896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33743851">Olaparib tablets as maintenance therapy in patients with platinum-sensitive relapsed ovarian cancer and a BRCA1/2 mutation (SOLO2/ENGOT-Ov21): a final analysis of a double-blind, randomised, placebo-controlled, phase 3 trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Poveda A,
Floquet A,
Ledermann JA,
Asher R,
Penson RT,
Oza AM,
Korach J,
Huzarski T,
Pignata S,
Friedlander M,
Baldoni A,
Park-Simon TW,
Tamura K,
Sonke GS,
Lisyanskaya A,
Kim JH,
Filho EA,
Milenkova T,
Lowe ES,
Rowe P,
Vergote I,
Pujade-Lauraine E;
SOLO2/ENGOT-Ov21 investigators</span><br />
<span class="medgenPMjournal">Lancet Oncol</span>
2021 May;22(5):620-631.
Epub 2021 Mar 18
doi: 10.1016/S1470-2045(21)00073-5.
<span class="bold">PMID: </span><a href="/pubmed/33743851" target="_blank">33743851</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30627969">Recent advances in Lynch syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Biller LH,
Syngal S,
Yurgelun MB</span><br />
<span class="medgenPMjournal">Fam Cancer</span>
2019 Apr;18(2):211-219.
doi: 10.1007/s10689-018-00117-1.
<span class="bold">PMID: </span><a href="/pubmed/30627969" target="_blank">30627969</a><a href="/pmc/articles/PMC6450737" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28152038">Exome sequencing covers &gt;98% of mutations identified on targeted next generation sequencing panels.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">LaDuca H,
Farwell KD,
Vuong H,
Lu HM,
Mu W,
Shahmirzadi L,
Tang S,
Chen J,
Bhide S,
Chao EC</span><br />
<span class="medgenPMjournal">PLoS One</span>
2017;12(2):e0170843.
Epub 2017 Feb 2
doi: 10.1371/journal.pone.0170843.
<span class="bold">PMID: </span><a href="/pubmed/28152038" target="_blank">28152038</a><a href="/pmc/articles/PMC5289469" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20cancer%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 (342)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37105987">Young-onset colorectal cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Spaander MCW,
Zauber AG,
Syngal S,
Blaser MJ,
Sung JJ,
You YN,
Kuipers EJ</span><br />
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
2023 Apr 27;9(1):21.
doi: 10.1038/s41572-023-00432-7.
<span class="bold">PMID: </span><a href="/pubmed/37105987" target="_blank">37105987</a><a href="/pmc/articles/PMC10589420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34476650">Hereditary pancreatic cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abe K,
Kitago M,
Kitagawa Y,
Hirasawa A</span><br />
<span class="medgenPMjournal">Int J Clin Oncol</span>
2021 Oct;26(10):1784-1792.
Epub 2021 Sep 2
doi: 10.1007/s10147-021-02015-6.
<span class="bold">PMID: </span><a href="/pubmed/34476650" target="_blank">34476650</a><a href="/pmc/articles/PMC8449773" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31853058">Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Li H,
LaDuca H,
Pesaran T,
Chao EC,
Dolinsky JS,
Parsons M,
Spurdle AB,
Polley EC,
Shimelis H,
Hart SN,
Hu C,
Couch FJ,
Goldgar DE</span><br />
<span class="medgenPMjournal">Genet Med</span>
2020 Apr;22(4):701-708.
Epub 2019 Dec 19
doi: 10.1038/s41436-019-0729-1.
<span class="bold">PMID: </span><a href="/pubmed/31853058" target="_blank">31853058</a><a href="/pmc/articles/PMC7118020" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30520562">Early-onset colorectal cancer in young individuals.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mauri G,
Sartore-Bianchi A,
Russo AG,
Marsoni S,
Bardelli A,
Siena S</span><br />
<span class="medgenPMjournal">Mol Oncol</span>
2019 Feb;13(2):109-131.
Epub 2018 Dec 22
doi: 10.1002/1878-0261.12417.
<span class="bold">PMID: </span><a href="/pubmed/30520562" target="_blank">30520562</a><a href="/pmc/articles/PMC6360363" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15639298">Colorectal cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Weitz J,
Koch M,
Debus J,
Höhler T,
Galle PR,
Büchler MW</span><br />
<span class="medgenPMjournal">Lancet</span>
2005 Jan 8-14;365(9454):153-65.
doi: 10.1016/S0140-6736(05)17706-X.
<span class="bold">PMID: </span><a href="/pubmed/15639298" target="_blank">15639298</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20cancer%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 (812)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37105987">Young-onset colorectal cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Spaander MCW,
Zauber AG,
Syngal S,
Blaser MJ,
Sung JJ,
You YN,
Kuipers EJ</span><br />
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
2023 Apr 27;9(1):21.
doi: 10.1038/s41572-023-00432-7.
<span class="bold">PMID: </span><a href="/pubmed/37105987" target="_blank">37105987</a><a href="/pmc/articles/PMC10589420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34798986">Identification of Lynch Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maratt JK,
Stoffel E</span><br />
<span class="medgenPMjournal">Gastrointest Endosc Clin N Am</span>
2022 Jan;32(1):45-58.
doi: 10.1016/j.giec.2021.09.002.
<span class="bold">PMID: </span><a href="/pubmed/34798986" target="_blank">34798986</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31853058">Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Li H,
LaDuca H,
Pesaran T,
Chao EC,
Dolinsky JS,
Parsons M,
Spurdle AB,
Polley EC,
Shimelis H,
Hart SN,
Hu C,
Couch FJ,
Goldgar DE</span><br />
<span class="medgenPMjournal">Genet Med</span>
2020 Apr;22(4):701-708.
Epub 2019 Dec 19
doi: 10.1038/s41436-019-0729-1.
<span class="bold">PMID: </span><a href="/pubmed/31853058" target="_blank">31853058</a><a href="/pmc/articles/PMC7118020" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31409088">DICER1 Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hořínová V,
Drábová K,
Nosková H,
Bajčiová V,
Šoukalová J,
Černá L,
Hůrková V,
Slabý O,
Štěrba J</span><br />
<span class="medgenPMjournal">Klin Onkol</span>
2019 Summer;32(Supplementum2):123-127.
doi: 10.14735/amko2019S123.
<span class="bold">PMID: </span><a href="/pubmed/31409088" target="_blank">31409088</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26182300">Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hansford S,
Kaurah P,
Li-Chang H,
Woo M,
Senz J,
Pinheiro H,
Schrader KA,
Schaeffer DF,
Shumansky K,
Zogopoulos G,
Santos TA,
Claro I,
Carvalho J,
Nielsen C,
Padilla S,
Lum A,
Talhouk A,
Baker-Lange K,
Richardson S,
Lewis I,
Lindor NM,
Pennell E,
MacMillan A,
Fernandez B,
Keller G,
Lynch H,
Shah SP,
Guilford P,
Gallinger S,
Corso G,
Roviello F,
Caldas C,
Oliveira C,
Pharoah PD,
Huntsman DG</span><br />
<span class="medgenPMjournal">JAMA Oncol</span>
2015 Apr;1(1):23-32.
doi: 10.1001/jamaoncol.2014.168.
<span class="bold">PMID: </span><a href="/pubmed/26182300" target="_blank">26182300</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20cancer%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 (941)</a></div></div>
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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="nl"><a target="_blank" href="/pubmed/38175972">Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bedrosian I,
Somerfield MR,
Achatz MI,
Boughey JC,
Curigliano G,
Friedman S,
Kohlmann WK,
Kurian AW,
Laronga C,
Lynce F,
Norquist BS,
Plichta JK,
Rodriguez P,
Shah PD,
Tischkowitz M,
Wood M,
Yadav S,
Yao K,
Robson ME</span><br />
<span class="medgenPMjournal">J Clin Oncol</span>
2024 Feb 10;42(5):584-604.
Epub 2024 Jan 4
doi: 10.1200/JCO.23.02225.
<span class="bold">PMID: </span><a href="/pubmed/38175972" target="_blank">38175972</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37934933">Chatbot Artificial Intelligence for Genetic Cancer Risk Assessment and Counseling: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Webster EM,
Ahsan MD,
Perez L,
Levi SR,
Thomas C,
Christos P,
Hickner A,
Hamilton JG,
Babagbemi K,
Cantillo E,
Holcomb K,
Chapman-Davis E,
Sharaf RN,
Frey MK</span><br />
<span class="medgenPMjournal">JCO Clin Cancer Inform</span>
2023 Sep;7:e2300123.
doi: 10.1200/CCI.23.00123.
<span class="bold">PMID: </span><a href="/pubmed/37934933" target="_blank">37934933</a><a href="/pmc/articles/PMC10730073" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37076288">Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Valle L,
Katz LH,
Latchford A,
Mur P,
Moreno V,
Frayling IM,
Heald B,
Capellá G;
InSiGHT Council</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2023 Nov;60(11):1035-1043.
Epub 2023 Apr 19
doi: 10.1136/jmg-2022-108984.
<span class="bold">PMID: </span><a href="/pubmed/37076288" target="_blank">37076288</a><a href="/pmc/articles/PMC10646901" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34043773">European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Seppälä TT,
Latchford A,
Negoi I,
Sampaio Soares A,
Jimenez-Rodriguez R,
Sánchez-Guillén L,
Evans DG,
Ryan N,
Crosbie EJ,
Dominguez-Valentin M,
Burn J,
Kloor M,
Knebel Doeberitz MV,
Duijnhoven FJBV,
Quirke P,
Sampson JR,
Møller P,
Möslein G;
European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)</span><br />
<span class="medgenPMjournal">Br J Surg</span>
2021 May 27;108(5):484-498.
doi: 10.1002/bjs.11902.
<span class="bold">PMID: </span><a href="/pubmed/34043773" target="_blank">34043773</a><a href="/pmc/articles/PMC10364896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31986064">Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Konstantinopoulos PA,
Norquist B,
Lacchetti C,
Armstrong D,
Grisham RN,
Goodfellow PJ,
Kohn EC,
Levine DA,
Liu JF,
Lu KH,
Sparacio D,
Annunziata CM</span><br />
<span class="medgenPMjournal">J Clin Oncol</span>
2020 Apr 10;38(11):1222-1245.
Epub 2020 Jan 27
doi: 10.1200/JCO.19.02960.
<span class="bold">PMID: </span><a href="/pubmed/31986064" target="_blank">31986064</a><a href="/pmc/articles/PMC8842911" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20cancer%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 (49)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1333600%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
<li><a href="/gtr/tests?term=C1333600%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (4)</a></li>
<li><a href="/gtr/tests?term=C1333600%5bDISCUI%5d&amp;filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (43)</a></li>
<li><a href="/gtr/tests?term=C1333600%5bDISCUI%5d&amp;filter=method%3A2%5F30" target="_blank">RNA analysis (1)</a></li>
<li><a href="/gtr/tests?term=C1333600%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
<li><a href="/gtr/tests?term=C1333600%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1333600%5bDISCUI%5d" target="_blank">See all (55)</a></total></li>
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