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<meta name="keywords" content="C4552100, disease or syndrome, familial non-polyposis colon cancer (hmsh2, hmlh1, hpms1, hpms2), hereditary colorectal endometrial cancer syndrome, hereditary defective mismatch repair syndrome, hereditary non-polyposis colon cancer (hmsh2, hmlh1, hpms1, hpms2), hereditary non-polyposis colon cancer type 1, hereditary nonpolyposis colon cancer (hmsh2, hmlh1, hpms1, hpms2), lynch syndrome, mlh1, msh2, msh6, pms2, syndrome, lynch, 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="Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1633554
|
||
ConceptID=C4552100
|
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-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Lynch syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633554</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.">C4552100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Lynch Syndrome; Syndrome, Lynch</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Lynch syndrome (716318002)</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="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></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="MLH1 - ID: 4292 - NCBI Gene" href="/gene/4292" class="medgenPMinfo">MLH1</a> (3p22.2); <a target="_blank" title="MSH2 - ID: 4436 - NCBI Gene" href="/gene/4436" class="medgenPMinfo">MSH2</a> (2p21-16.3); <a target="_blank" title="MSH6 - ID: 2956 - NCBI Gene" href="/gene/2956" class="medgenPMinfo">MSH6</a> (2p16.3); <a target="_blank" title="PMS2 - ID: 5395 - NCBI Gene" href="/gene/5395" class="medgenPMinfo">PMS2</a> (7p22.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0005835" target="_blank">MONDO:0005835</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=144">ORPHA144</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_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/NBK1211" target="_blank">Lynch Syndrome</a></div><div>Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome. [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/NBK1211#hnpcc.Summary" target="NBK1211">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Diagnosis" target="NBK1211">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Clinical_Characteristics" target="NBK1211">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Genetically_Related_Allelic_Disord" target="NBK1211">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Differential_Diagnosis" target="NBK1211">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Management" target="NBK1211">Management</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Genetic_Counseling" target="NBK1211">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Resources" target="NBK1211">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Molecular_Genetics" target="NBK1211">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Chapter_Notes" target="NBK1211">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.References" target="NBK1211">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Gregory Idos | Laura Valle <a href="/books/NBK1211" target="NBK1211" title="NCBI Bookshelf: Lynch Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4552100[DISCUI]&test_type=Clinical" ref="ncbi_uid=1633554">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C4552100[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=1633554">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1211/" ref="ncbi_uid=1633554">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1633554" ref="ncbi_uid=1633554">V</a></span></span><span class="TLline">Lynch syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/82774" ref="tree=MeSH" title="MedGen record for DNA repair disease">DNA repair disease</a></span><ul><li><span class="matched_ds">Lynch syndrome</span><ul><li><span class="TLline"><a href="/medgen/232603" ref="tree=MeSH" title="MedGen record for Colorectal cancer, hereditary nonpolyposis, type 2">Colorectal cancer, hereditary nonpolyposis, type 2</a></span><ul><li><span class="TLline"><a href="/medgen/231157" ref="tree=MeSH" title="MedGen record for Muir-Torré syndrome">Muir-Torré syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/423615" ref="tree=MeSH" title="MedGen record for Lynch syndrome 1">Lynch syndrome 1</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_105">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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/36115290">Deficient mismatch repair/microsatellite unstable colorectal cancer: Diagnosis, prognosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taieb J,
|
||
Svrcek M,
|
||
Cohen R,
|
||
Basile D,
|
||
Tougeron D,
|
||
Phelip JM</span><br />
|
||
<span class="medgenPMjournal">Eur J Cancer</span>
|
||
2022 Nov;175:136-157.
|
||
Epub 2022 Sep 14
|
||
doi: 10.1016/j.ejca.2022.07.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36115290" target="_blank">36115290</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34003218">Screening for Colorectal Cancer: US Preventive Services Task Force Recommendation Statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">US Preventive Services Task Force,
|
||
Davidson KW,
|
||
Barry MJ,
|
||
Mangione CM,
|
||
Cabana M,
|
||
Caughey AB,
|
||
Davis EM,
|
||
Donahue KE,
|
||
Doubeni CA,
|
||
Krist AH,
|
||
Kubik M,
|
||
Li L,
|
||
Ogedegbe G,
|
||
Owens DK,
|
||
Pbert L,
|
||
Silverstein M,
|
||
Stevermer J,
|
||
Tseng CW,
|
||
Wong JB</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2021 May 18;325(19):1965-1977.
|
||
doi: 10.1001/jama.2021.6238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34003218" target="_blank">34003218</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25645574">ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Syngal S,
|
||
Brand RE,
|
||
Church JM,
|
||
Giardiello FM,
|
||
Hampel HL,
|
||
Burt RW;
|
||
American College of Gastroenterology</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2015 Feb;110(2):223-62; quiz 263.
|
||
Epub 2015 Feb 3
|
||
doi: 10.1038/ajg.2014.435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25645574" target="_blank">25645574</a><a href="/pmc/articles/PMC4695986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22lynch%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (433)</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.nccn.org/professionals/physician_gls/pdf/colon.pdf" target="_blank">NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Colon Cancer, 2024</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/ng151" target="_blank">UK NICE Guideline NG151, Colorectal cancer, 2021</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/dg42" target="_blank">UK NICE Diagnostics Guidance DG42, Testing strategies for Lynch syndrome in people with endometrial cancer, 2020</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.sgo.org/clinical-practice/guidelines/screening-for-lynch-syndrome-in-endometrial-cancer" target="_blank">Society of Gynecologic Oncology (SGO) Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Colon-Cancer.pdf" target="_blank">American College of Medical Genetics and Genomics Family History ACT Sheet, Colon Cancer (Asymptomatic), 2012</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/31302137">Lynch Syndrome in Urologic Malignancies - What Does the Urologist Need to Know?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldberg H,
|
||
Wallis CJD,
|
||
Klaassen Z,
|
||
Chandrasekar T,
|
||
Fleshner N,
|
||
Zlotta AR</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2019 Dec;134:24-31.
|
||
Epub 2019 Jul 11
|
||
doi: 10.1016/j.urology.2019.07.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31302137" target="_blank">31302137</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389505">Genetics of Colorectal Cancer (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/26389505" target="_blank">26389505</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><h3 class="subhead">External</h3><h3 class="nl vspace"><a href="http://www.nchpeg.org/documents/crc/11-0456%20Fact%20sheets%20(MSI%20and%20IHC%20testing).pdf" target="_blank">AMA/NCHPEG, 2012</a></h3>
|
||
</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/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/34630437">Lynch Syndrome and MSI-H Cancers: From Mechanisms to "Off-The-Shelf" Cancer Vaccines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roudko V,
|
||
Cimen Bozkus C,
|
||
Greenbaum B,
|
||
Lucas A,
|
||
Samstein R,
|
||
Bhardwaj N</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:757804.
|
||
Epub 2021 Sep 24
|
||
doi: 10.3389/fimmu.2021.757804.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34630437" target="_blank">34630437</a><a href="/pmc/articles/PMC8498209" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33357406">Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jia X,
|
||
Burugula BB,
|
||
Chen V,
|
||
Lemons RM,
|
||
Jayakody S,
|
||
Maksutova M,
|
||
Kitzman JO</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2021 Jan 7;108(1):163-175.
|
||
Epub 2020 Dec 23
|
||
doi: 10.1016/j.ajhg.2020.12.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33357406" target="_blank">33357406</a><a href="/pmc/articles/PMC7820803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32141610">Molecular pathology of Lynch syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cerretelli G,
|
||
Ager A,
|
||
Arends MJ,
|
||
Frayling IM</span><br />
|
||
<span class="medgenPMjournal">J Pathol</span>
|
||
2020 Apr;250(5):518-531.
|
||
doi: 10.1002/path.5422.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32141610" target="_blank">32141610</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=%22Lynch%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2057)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36706841">Lynch Syndrome Genetics and Clinical Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peltomäki P,
|
||
Nyström M,
|
||
Mecklin JP,
|
||
Seppälä TT</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2023 Apr;164(5):783-799.
|
||
Epub 2023 Jan 24
|
||
doi: 10.1053/j.gastro.2022.08.058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36706841" target="_blank">36706841</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34837268">Mismatch repair deficiency: The what, how and why it is important.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olave MC,
|
||
Graham RP</span><br />
|
||
<span class="medgenPMjournal">Genes Chromosomes Cancer</span>
|
||
2022 Jun;61(6):314-321.
|
||
Epub 2021 Dec 9
|
||
doi: 10.1002/gcc.23015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34837268" target="_blank">34837268</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/34398969">Endometrial cancer in Lynch syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao S,
|
||
Chen L,
|
||
Zang Y,
|
||
Liu W,
|
||
Liu S,
|
||
Teng F,
|
||
Xue F,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">Int J Cancer</span>
|
||
2022 Jan 1;150(1):7-17.
|
||
Epub 2021 Sep 9
|
||
doi: 10.1002/ijc.33763.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34398969" target="_blank">34398969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30231390">Recent Advances in Lynch Syndrome: Diagnosis, Treatment, and Cancer Prevention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yurgelun MB,
|
||
Hampel H</span><br />
|
||
<span class="medgenPMjournal">Am Soc Clin Oncol Educ Book</span>
|
||
2018 May 23;38:101-109.
|
||
doi: 10.1200/EDBK_208341.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30231390" target="_blank">30231390</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lynch%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2174)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35351276">Targeted Therapy for Colorectal Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakata S,
|
||
Larson DW</span><br />
|
||
<span class="medgenPMjournal">Surg Oncol Clin N Am</span>
|
||
2022 Apr;31(2):255-264.
|
||
Epub 2022 Mar 9
|
||
doi: 10.1016/j.soc.2021.11.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35351276" target="_blank">35351276</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34630437">Lynch Syndrome and MSI-H Cancers: From Mechanisms to "Off-The-Shelf" Cancer Vaccines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roudko V,
|
||
Cimen Bozkus C,
|
||
Greenbaum B,
|
||
Lucas A,
|
||
Samstein R,
|
||
Bhardwaj N</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:757804.
|
||
Epub 2021 Sep 24
|
||
doi: 10.3389/fimmu.2021.757804.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34630437" target="_blank">34630437</a><a href="/pmc/articles/PMC8498209" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33893087">Aspirin in Hepatocellular Carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ricciotti E,
|
||
Wangensteen KJ,
|
||
FitzGerald GA</span><br />
|
||
<span class="medgenPMjournal">Cancer Res</span>
|
||
2021 Jul 15;81(14):3751-3761.
|
||
Epub 2021 Apr 23
|
||
doi: 10.1158/0008-5472.CAN-21-0758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33893087" target="_blank">33893087</a><a href="/pmc/articles/PMC8286305" 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 class="nl"><a target="_blank" href="/pubmed/27546842">Small Bowel Adenocarcinoma.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Aparicio T,
|
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Zaanan A,
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Mary F,
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Afchain P,
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Manfredi S,
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<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
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2016 Sep;45(3):447-57.
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doi: 10.1016/j.gtc.2016.04.004.
|
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<span class="bold">PMID: </span><a href="/pubmed/27546842" target="_blank">27546842</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lynch%20syndrome%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 (355)</a></div><h3 class="subhead">Prognosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/36878561">Update in the molecular classification of endometrial carcinoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Léon-Castillo A</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/36878561" target="_blank">36878561</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34837268">Mismatch repair deficiency: The what, how and why it is important.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Olave MC,
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Graham RP</span><br />
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<span class="medgenPMjournal">Genes Chromosomes Cancer</span>
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2022 Jun;61(6):314-321.
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Epub 2021 Dec 9
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<span class="bold">PMID: </span><a href="/pubmed/34837268" target="_blank">34837268</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34798986">Identification of Lynch Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Maratt JK,
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Stoffel E</span><br />
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doi: 10.1016/j.giec.2021.09.002.
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<span class="bold">PMID: </span><a href="/pubmed/34798986" target="_blank">34798986</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30561401">Microsatellite instability in colorectal cancer.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">De' Angelis GL,
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Bottarelli L,
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Azzoni C,
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De' Angelis N,
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Leandro G,
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2018 Dec 17;89(9-S):97-101.
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<span class="bold">PMID: </span><a href="/pubmed/30561401" target="_blank">30561401</a><a href="/pmc/articles/PMC6502181" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25980754">Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yurgelun MB,
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Allen B,
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Kaldate RR,
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Bowles KR,
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Judkins T,
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Kaushik P,
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Roa BB,
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Wenstrup RJ,
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Hartman AR,
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Syngal S</span><br />
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<span class="medgenPMjournal">Gastroenterology</span>
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2015 Sep;149(3):604-13.e20.
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Epub 2015 May 14
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<span class="bold">PMID: </span><a href="/pubmed/25980754" target="_blank">25980754</a><a href="/pmc/articles/PMC4550537" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lynch%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1003)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35288842">Overview of the 2022 WHO Classification of Adrenal Cortical Tumors.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mete O,
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Erickson LA,
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Juhlin CC,
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de Krijger RR,
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Sasano H,
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Volante M,
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Papotti MG</span><br />
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<span class="medgenPMjournal">Endocr Pathol</span>
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2022 Mar;33(1):155-196.
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Epub 2022 Mar 14
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doi: 10.1007/s12022-022-09710-8.
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<span class="bold">PMID: </span><a href="/pubmed/35288842" target="_blank">35288842</a><a href="/pmc/articles/PMC8920443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34837268">Mismatch repair deficiency: The what, how and why it is important.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olave MC,
|
||
Graham RP</span><br />
|
||
<span class="medgenPMjournal">Genes Chromosomes Cancer</span>
|
||
2022 Jun;61(6):314-321.
|
||
Epub 2021 Dec 9
|
||
doi: 10.1002/gcc.23015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34837268" target="_blank">34837268</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 />
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||
<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/33357406">Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jia X,
|
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Burugula BB,
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Chen V,
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Lemons RM,
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Jayakody S,
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Maksutova M,
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Kitzman JO</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
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2021 Jan 7;108(1):163-175.
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Epub 2020 Dec 23
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doi: 10.1016/j.ajhg.2020.12.003.
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<span class="bold">PMID: </span><a href="/pubmed/33357406" target="_blank">33357406</a><a href="/pmc/articles/PMC7820803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31992580">Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Q,
|
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Leclerc J,
|
||
Bougeard G,
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Olschwang S,
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Vasseur S,
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Cassinari K,
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Boidin D,
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Lefol C,
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Naïbo P,
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Frébourg T,
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Buisine MP,
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Baert-Desurmont S;
|
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French Consortium of Oncogenetic laboratories for colorectal cancers, Unicancer Cancer Genetic Group (GGC)</span><br />
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<span class="medgenPMjournal">J Med Genet</span>
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2020 Jul;57(7):487-499.
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Epub 2020 Jan 28
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doi: 10.1136/jmedgenet-2019-106256.
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||
<span class="bold">PMID: </span><a href="/pubmed/31992580" target="_blank">31992580</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lynch%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1030)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35177335">Worldwide prevalence of Lynch syndrome in patients with colorectal cancer: Systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abu-Ghazaleh N,
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Kaushik V,
|
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Gorelik A,
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Jenkins M,
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Macrae F</span><br />
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<span class="medgenPMjournal">Genet Med</span>
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||
2022 May;24(5):971-985.
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||
Epub 2022 Feb 15
|
||
doi: 10.1016/j.gim.2022.01.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35177335" target="_blank">35177335</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,
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Jimenez-Rodriguez R,
|
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Sánchez-Guillén L,
|
||
Evans DG,
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||
Ryan N,
|
||
Crosbie EJ,
|
||
Dominguez-Valentin M,
|
||
Burn J,
|
||
Kloor M,
|
||
Knebel Doeberitz MV,
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||
Duijnhoven FJBV,
|
||
Quirke P,
|
||
Sampson JR,
|
||
Møller P,
|
||
Möslein G;
|
||
European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)</span><br />
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||
<span class="medgenPMjournal">Br J Surg</span>
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||
2021 May 27;108(5):484-498.
|
||
doi: 10.1002/bjs.11902.
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<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/31086306">The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ryan NAJ,
|
||
Glaire MA,
|
||
Blake D,
|
||
Cabrera-Dandy M,
|
||
Evans DG,
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||
Crosbie EJ</span><br />
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<span class="medgenPMjournal">Genet Med</span>
|
||
2019 Oct;21(10):2167-2180.
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||
Epub 2019 May 14
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||
doi: 10.1038/s41436-019-0536-8.
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||
<span class="bold">PMID: </span><a href="/pubmed/31086306" target="_blank">31086306</a><a href="/pmc/articles/PMC8076013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31056702">ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luchini C,
|
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Bibeau F,
|
||
Ligtenberg MJL,
|
||
Singh N,
|
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Nottegar A,
|
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Bosse T,
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Miller R,
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Riaz N,
|
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Douillard JY,
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Andre F,
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||
Scarpa A</span><br />
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||
<span class="medgenPMjournal">Ann Oncol</span>
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||
2019 Aug 1;30(8):1232-1243.
|
||
doi: 10.1093/annonc/mdz116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31056702" target="_blank">31056702</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20581245">Peutz-Jeghers syndrome: a systematic review and recommendations for management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beggs AD,
|
||
Latchford AR,
|
||
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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Blanco I,
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Bülow S,
|
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Burn J,
|
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Capella G,
|
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Colas C,
|
||
Friedl W,
|
||
Møller P,
|
||
Hes FJ,
|
||
Järvinen H,
|
||
Mecklin JP,
|
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Nagengast FM,
|
||
Parc Y,
|
||
Phillips RK,
|
||
Hyer W,
|
||
Ponz de Leon M,
|
||
Renkonen-Sinisalo L,
|
||
Sampson JR,
|
||
Stormorken A,
|
||
Tejpar S,
|
||
Thomas HJ,
|
||
Wijnen JT,
|
||
Clark SK,
|
||
Hodgson SV</span><br />
|
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<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=%22Lynch%20syndrome%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 (58)</a></div></div>
|
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|
||
</div></div></div></div></div></div></div>
|
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|
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|
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|
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|
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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|
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|
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<div class="portlet mgSection" id="ID_113">
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<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>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4552100%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (58)</a></li>
|
||
<li><a href="/gtr/tests?term=C4552100%5bDISCUI%5d&filter=method%3A1%5F3" target="_blank">Immunohistochemistry (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C4552100%5bDISCUI%5d&filter=method%3A2%5F15" target="_blank">Methylation analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C4552100%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C4552100%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C4552100%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4552100%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C4552100%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (89)</a></li>
|
||
<li><a href="/gtr/tests?term=C4552100%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (15)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4552100%5bDISCUI%5d" target="_blank">See all (122)</a></total></li>
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<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>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=144" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Lynch%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22lynch%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Lynch%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nccn.org/professionals/physician_gls/pdf/colon.pdf">NCCN, 2024</a><div>NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Colon Cancer, 2024</div></li><li><a target="_blank" href="https://www.nice.org.uk/guidance/ng151">NICE, 2021</a><div>UK NICE Guideline NG151, Colorectal cancer, 2021</div></li><li><a target="_blank" href="https://www.nice.org.uk/guidance/dg42">NICE, 2020</a><div>UK NICE Diagnostics Guidance DG42, Testing strategies for Lynch syndrome in people with endometrial cancer, 2020</div></li><li><a target="_blank" href="https://www.sgo.org/clinical-practice/guidelines/screening-for-lynch-syndrome-in-endometrial-cancer">SGO, 2014</a><div>Society of Gynecologic Oncology (SGO) Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Colon-Cancer.pdf">ACMG ACT, 2012</a><div>American College of Medical Genetics and Genomics Family History ACT Sheet, Colon Cancer (Asymptomatic), 2012</div></li></ul></div>
|
||
</div>
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|
||
<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=120436%20600259%20600678%20609309" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2956[geneid]" target="_blank">View MSH6 variations in ClinVar</a></li><li><a href="/clinvar/?term=4292[geneid]" target="_blank">View MLH1 variations in ClinVar</a></li><li><a href="/clinvar/?term=4436[geneid]" target="_blank">View MSH2 variations in ClinVar</a></li><li><a href="/clinvar/?term=5395[geneid]" target="_blank">View PMS2 variations in ClinVar</a></li><li><a href="/nuccore/160948584,160948585,160948586,198041722" target="_blank">RefSeqGene</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<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/Hereditary+Non-Polyposis+Colorectal+Cancer+%28HNPCC%29/3371" target="_blank">Genetic Alliance</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Lynch%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9905/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
||
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<div class="portlet brieflink">
|
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<h3>Reviews</h3>
|
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|
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|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301390" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Lynch%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
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|
||
<li>
|
||
<a href="/pubmed?term=Lynch%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
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|
||
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|
||
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|
||
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|
||
|
||
<!-- MedGen supplemental column ends here -->
|
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<div class="portlet brieflink">
|
||
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<h3>Related information</h3>
|
||
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1633554" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1633554" ref="log$=recordlinks">Gene</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4552100[DISCUI]" ref="log$=recordlinks">GTR</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4552100[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4552100[DISCUI]&test_type=Research" ref="log$=recordlinks">GTR(Research)</a>
|
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<div class="brieflinkpop offscreen_noflow">Research tests in GTR</div>
|
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=1633554" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1633554" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=1633554" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
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</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1633554" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
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</li>
|
||
</ul>
|
||
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|
||
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|
||
|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d68e292f30673f7b7ef616">Lynch syndrome</a>
|
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<div class="ralinkpop offscreen_noflow">Lynch syndrome<div class="brieflinkpopdesc"></div></div>
|
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d68e24cde49f3df762688e">PMS1 PMS1 homolog 1, mismatch repair system component [Homo sapiens]</a>
|
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<div class="ralinkpop offscreen_noflow">PMS1 PMS1 homolog 1, mismatch repair system component [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:5378</div></div>
|
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<div class="tertiary">Gene</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d68e192f30673f7b7eb85b">CALM3 calmodulin 3 [Homo sapiens]</a>
|
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<div class="ralinkpop offscreen_noflow">CALM3 calmodulin 3 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:808</div></div>
|
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<div class="tertiary">Gene</div>
|
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|
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d68e1667c23b31e0387552">C5394068[conceptid] <span class="number">(1)</span></a>
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