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<meta name="keywords" content="C1333991, coca2, colon cancer, familial nonpolyposis, type 2, colorectal cancer, hereditary nonpolyposis, type 2, disease or syndrome, familial non-polyposis colon cancer type 2, fcc2, hereditary non-polyposis colon cancer type 2, hereditary non-polyposis colorectal cancer, type 2, hereditary nonpolyposis colorectal cancer type 2, hnpcc2, lynch 2 syndrome, lynch cancer family syndrome 2, lynch cancer family syndrome ii, lynch syndrome 2, lynch syndrome ii, lynch2, mlh1, mlh1-related lynch syndrome, 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=232603
|
||
ConceptID=C1333991
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Colorectal cancer, hereditary nonpolyposis, type 2<span class="h1sub">(LYNCH2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>232603</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.">C1333991</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>COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; Hereditary non-polyposis colorectal cancer, type 2; Lynch syndrome II; LYNCH2; MLH1-Related Lynch Syndrome</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="MLH1 - ID: 4292 - NCBI Gene" href="/gene/4292" class="medgenPMinfo">MLH1</a> (3p22.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012249" target="_blank">MONDO:0012249</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/609310" target="_blank">609310</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">
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<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_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />People with Lynch syndrome may occasionally have noncancerous (benign) growths in the colon, called colon polyps. In individuals with this disorder, colon polyps occur at a younger age but not in greater numbers than they do in the general population.<br /><br />Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, urinary tract, brain, and skin. Additionally, women with this disorder have a high risk of cancer of the ovaries and lining of the uterus (endometrial cancer). Women with Lynch syndrome have a higher overall risk of developing cancer than men with the condition because of these cancers of the female reproductive system. In individuals with Lynch syndrome who develop cancer, the cancer typically occurs in their forties or fifties. <a target="_blank" href="https://medlineplus.gov/genetics/condition/lynch-syndrome">https://medlineplus.gov/genetics/condition/lynch-syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_2839"><div><strong>Colon cancer</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2839</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.">C0007102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2839">Feature record</a> | <a href="/medgen?term=%22Colon%20cancer%22%5BClinical%20Features%5D%20OR%202839%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2839" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colon cancer</a></span></li></ul></li></ul></div></div>
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||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=C1333991[DISCUI]&test_type=Clinical" ref="ncbi_uid=232603">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=232603" target="_blank" href="/omim/120436">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1211/" ref="ncbi_uid=232603">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=232603" ref="ncbi_uid=232603">V</a></span></span><span class="TLline">Colorectal cancer, hereditary nonpolyposis, type 2</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/44376" ref="tree=MeSH" title="MedGen record for Metabolic disease">Metabolic disease</a></span><ul><li><span class="TLline"><a href="/medgen/327583" ref="tree=MeSH" title="MedGen record for DNA Repair-Deficiency Disorders">DNA Repair-Deficiency Disorders</a></span><ul><li><span class="TLline"><a href="/medgen/40399" ref="tree=MeSH" title="MedGen record for Hereditary nonpolyposis colorectal neoplasms">Hereditary nonpolyposis colorectal neoplasms</a></span><ul><li><span class="matched_ds">Colorectal cancer, hereditary nonpolyposis, type 2</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></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/38679790">S1-Guideline Sebaceous Carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Utikal J,
|
||
Nagel P,
|
||
Müller V,
|
||
Becker JC,
|
||
Dippel E,
|
||
Frisman A,
|
||
Gschnell M,
|
||
Griewank K,
|
||
Hadaschik E,
|
||
Helbig D,
|
||
Hillen U,
|
||
Leiter U,
|
||
Pföhler C,
|
||
Krönig L,
|
||
Ziemer M,
|
||
Ugurel S</span><br />
|
||
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
|
||
2024 May;22(5):730-747.
|
||
Epub 2024 Apr 28
|
||
doi: 10.1111/ddg.15405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38679790" target="_blank">38679790</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32719484">Population genetic screening efficiently identifies carriers of autosomal dominant diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grzymski JJ,
|
||
Elhanan G,
|
||
Morales Rosado JA,
|
||
Smith E,
|
||
Schlauch KA,
|
||
Read R,
|
||
Rowan C,
|
||
Slotnick N,
|
||
Dabe S,
|
||
Metcalf WJ,
|
||
Lipp B,
|
||
Reed H,
|
||
Sharma L,
|
||
Levin E,
|
||
Kao J,
|
||
Rashkin M,
|
||
Bowes J,
|
||
Dunaway K,
|
||
Slonim A,
|
||
Washington N,
|
||
Ferber M,
|
||
Bolze A,
|
||
Lu JT</span><br />
|
||
<span class="medgenPMjournal">Nat Med</span>
|
||
2020 Aug;26(8):1235-1239.
|
||
Epub 2020 Jul 27
|
||
doi: 10.1038/s41591-020-0982-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32719484" target="_blank">32719484</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28059909">Clinical Practice Guidelines for the Surgical Treatment of Patients With Lynch Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herzig DO,
|
||
Buie WD,
|
||
Weiser MR,
|
||
You YN,
|
||
Rafferty JF,
|
||
Feingold D,
|
||
Steele SR</span><br />
|
||
<span class="medgenPMjournal">Dis Colon Rectum</span>
|
||
2017 Feb;60(2):137-143.
|
||
doi: 10.1097/DCR.0000000000000785.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28059909" target="_blank">28059909</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(colorectal%20cancer%2C%20hereditary%20nonpolyposis%2C%20type%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (60)</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/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.acmg.net/PDFLibrary/Lynch-Syndrome.pdf" target="_blank">American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants, Lynch Syndrome (Hereditary Non-polyposis Colon Cancer [HNPCC]), 2019</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/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/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,
|
||
Bibeau F,
|
||
Ligtenberg MJL,
|
||
Singh N,
|
||
Nottegar A,
|
||
Bosse T,
|
||
Miller R,
|
||
Riaz N,
|
||
Douillard JY,
|
||
Andre F,
|
||
Scarpa A</span><br />
|
||
<span class="medgenPMjournal">Ann Oncol</span>
|
||
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/28477886">Sebaceous Neoplasms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flux K</span><br />
|
||
<span class="medgenPMjournal">Surg Pathol Clin</span>
|
||
2017 Jun;10(2):367-382.
|
||
doi: 10.1016/j.path.2017.01.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28477886" target="_blank">28477886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28061006">Confirmation of ProMisE: A simple, genomics-based clinical classifier for endometrial cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Talhouk A,
|
||
McConechy MK,
|
||
Leung S,
|
||
Yang W,
|
||
Lum A,
|
||
Senz J,
|
||
Boyd N,
|
||
Pike J,
|
||
Anglesio M,
|
||
Kwon JS,
|
||
Karnezis AN,
|
||
Huntsman DG,
|
||
Gilks CB,
|
||
McAlpine JN</span><br />
|
||
<span class="medgenPMjournal">Cancer</span>
|
||
2017 Mar 1;123(5):802-813.
|
||
Epub 2017 Jan 6
|
||
doi: 10.1002/cncr.30496.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28061006" target="_blank">28061006</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27838401">The evolving role of microsatellite instability in colorectal cancer: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gelsomino F,
|
||
Barbolini M,
|
||
Spallanzani A,
|
||
Pugliese G,
|
||
Cascinu S</span><br />
|
||
<span class="medgenPMjournal">Cancer Treat Rev</span>
|
||
2016 Dec;51:19-26.
|
||
Epub 2016 Oct 27
|
||
doi: 10.1016/j.ctrv.2016.10.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27838401" target="_blank">27838401</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27546842">Small Bowel Adenocarcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aparicio T,
|
||
Zaanan A,
|
||
Mary F,
|
||
Afchain P,
|
||
Manfredi S,
|
||
Evans TR</span><br />
|
||
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
|
||
2016 Sep;45(3):447-57.
|
||
doi: 10.1016/j.gtc.2016.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27546842" target="_blank">27546842</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colorectal%20cancer%2C%20hereditary%20nonpolyposis%2C%20type%202%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (295)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38679790">S1-Guideline Sebaceous Carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Utikal J,
|
||
Nagel P,
|
||
Müller V,
|
||
Becker JC,
|
||
Dippel E,
|
||
Frisman A,
|
||
Gschnell M,
|
||
Griewank K,
|
||
Hadaschik E,
|
||
Helbig D,
|
||
Hillen U,
|
||
Leiter U,
|
||
Pföhler C,
|
||
Krönig L,
|
||
Ziemer M,
|
||
Ugurel S</span><br />
|
||
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
|
||
2024 May;22(5):730-747.
|
||
Epub 2024 Apr 28
|
||
doi: 10.1111/ddg.15405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38679790" target="_blank">38679790</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29196359">Inherited skin tumour syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown S,
|
||
Brennan P,
|
||
Rajan N</span><br />
|
||
<span class="medgenPMjournal">Clin Med (Lond)</span>
|
||
2017 Dec;17(6):562-567.
|
||
doi: 10.7861/clinmedicine.17-6-562.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29196359" target="_blank">29196359</a><a href="/pmc/articles/PMC6297702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28477886">Sebaceous Neoplasms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flux K</span><br />
|
||
<span class="medgenPMjournal">Surg Pathol Clin</span>
|
||
2017 Jun;10(2):367-382.
|
||
doi: 10.1016/j.path.2017.01.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28477886" target="_blank">28477886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27546842">Small Bowel Adenocarcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aparicio T,
|
||
Zaanan A,
|
||
Mary F,
|
||
Afchain P,
|
||
Manfredi S,
|
||
Evans TR</span><br />
|
||
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
|
||
2016 Sep;45(3):447-57.
|
||
doi: 10.1016/j.gtc.2016.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27546842" target="_blank">27546842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27178686">The cutaneous manifestations of gastrointestinal malignancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schadt CR</span><br />
|
||
<span class="medgenPMjournal">Semin Oncol</span>
|
||
2016 Jun;43(3):341-6.
|
||
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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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Evans TR</span><br />
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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=%22Colorectal%20cancer%2C%20hereditary%20nonpolyposis%2C%20type%202%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (187)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31992580">Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang Q,
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Leclerc J,
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<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Luchini C,
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Bibeau F,
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Ligtenberg MJL,
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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.
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doi: 10.1093/annonc/mdz116.
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<span class="bold">PMID: </span><a href="/pubmed/31056702" target="_blank">31056702</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28061006">Confirmation of ProMisE: A simple, genomics-based clinical classifier for endometrial cancer.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Talhouk A,
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McConechy MK,
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Leung S,
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||
Yang W,
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Lum A,
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Senz J,
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Boyd N,
|
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Pike J,
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Anglesio M,
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||
Kwon JS,
|
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Karnezis AN,
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Huntsman DG,
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Gilks CB,
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McAlpine JN</span><br />
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<span class="medgenPMjournal">Cancer</span>
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2017 Mar 1;123(5):802-813.
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Epub 2017 Jan 6
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doi: 10.1002/cncr.30496.
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<span class="bold">PMID: </span><a href="/pubmed/28061006" target="_blank">28061006</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27838401">The evolving role of microsatellite instability in colorectal cancer: A review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gelsomino F,
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Barbolini M,
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Spallanzani A,
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Pugliese G,
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Cascinu S</span><br />
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<span class="medgenPMjournal">Cancer Treat Rev</span>
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<span class="bold">PMID: </span><a href="/pubmed/27838401" target="_blank">27838401</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24603434">A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Roberts ME,
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Riegert-Johnson DL,
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Thomas BC,
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Rumilla KM,
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Thomas CS,
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Heckman MG,
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Purcell JU,
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Hanson NB,
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Leppig KA,
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<span class="bold">PMID: </span><a href="/pubmed/24603434" target="_blank">24603434</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colorectal%20cancer%2C%20hereditary%20nonpolyposis%2C%20type%202%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (157)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">
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||
<div class="nl"><a target="_blank" href="/pubmed/33604737">Rate of dissemination and prognosis in early and advanced stage colorectal cancer based on microsatellite instability status: systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Toh JWT,
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Phan K,
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Reza F,
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Chapuis P,
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Spring KJ</span><br />
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<span class="medgenPMjournal">Int J Colorectal Dis</span>
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2021 Aug;36(8):1573-1596.
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Epub 2021 Feb 18
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doi: 10.1007/s00384-021-03874-1.
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||
<span class="bold">PMID: </span><a href="/pubmed/33604737" target="_blank">33604737</a></div>
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||
|
||
<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,
|
||
Bibeau F,
|
||
Ligtenberg MJL,
|
||
Singh N,
|
||
Nottegar A,
|
||
Bosse T,
|
||
Miller R,
|
||
Riaz N,
|
||
Douillard JY,
|
||
Andre F,
|
||
Scarpa A</span><br />
|
||
<span class="medgenPMjournal">Ann Oncol</span>
|
||
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>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/26773421">Ovarian cancer in Lynch syndrome; a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Helder-Woolderink JM,
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Blok EA,
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||
Vasen HF,
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Hollema H,
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Mourits MJ,
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De Bock GH</span><br />
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<span class="medgenPMjournal">Eur J Cancer</span>
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<span class="bold">PMID: </span><a href="/pubmed/26773421" target="_blank">26773421</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/23510156">Risk of breast cancer in Lynch syndrome: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Win AK,
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<span class="medgenPMjournal">Breast Cancer Res</span>
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<span class="bold">PMID: </span><a href="/pubmed/23510156" target="_blank">23510156</a><a href="/pmc/articles/PMC3672741" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/21306348">A systematic review of gynecological cancer surveillance in women belonging to hereditary nonpolyposis colorectal cancer (Lynch syndrome) families.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Auranen A,
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Joutsiniemi T</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/21306348" target="_blank">21306348</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colorectal%20cancer%2C%20hereditary%20nonpolyposis%2C%20type%202%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div></div>
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||
</div>
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||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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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_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1333991%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (88)</a></li>
|
||
<li><a href="/gtr/tests?term=C1333991%5bDISCUI%5d&filter=method%3A2%5F15" target="_blank">Methylation analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1333991%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1333991%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C1333991%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1333991%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C1333991%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1333991%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (89)</a></li>
|
||
<li><a href="/gtr/tests?term=C1333991%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (16)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1333991%5bDISCUI%5d" target="_blank">See all (112)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=609310" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Colorectal%20cancer,%20hereditary%20nonpolyposis,%20type%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(colorectal%20cancer%2C%20hereditary%20nonpolyposis%2C%20type%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Colorectal%20cancer%2C%20hereditary%20nonpolyposis%2C%20type%202%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.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/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.acmg.net/PDFLibrary/Lynch-Syndrome.pdf">ACMG ACT, 2019</a><div>American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants, Lynch Syndrome (Hereditary Non-polyposis Colon Cancer [HNPCC]), 2019</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>
|
||
|
||
<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" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4292[geneid]" target="_blank">View MLH1 variations in ClinVar</a></li><li><a href="/nuccore/160948584" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=609310" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/lynch_syndrome_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Colorectal%20cancer,%20hereditary%20nonpolyposis,%20type%202" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/lynch-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15457/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/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=Colorectal%20cancer,%20hereditary%20nonpolyposis,%20type%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Colorectal%20cancer,%20hereditary%20nonpolyposis,%20type%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=232603" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=232603" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1333991[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1333991[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=232603" ref="log$=recordlinks">MeSH</a>
|
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=232603" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=232603" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=232603" ref="log$=recordlinks">PMC Articles</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=232603" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=232603" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=232603" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=232603" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
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|
||
|
||
|
||
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<h3>Recent activity</h3>
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<ul id="activity">
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||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d49f3b2f30673f7b17f901">Colorectal cancer, hereditary nonpolyposis, type 2</a>
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||
<div class="ralinkpop offscreen_noflow">Colorectal cancer, hereditary nonpolyposis, type 2<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<div class="ralinkpop offscreen_noflow">Hereditary nonpolyposis colorectal neoplasms<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<li class="ra_rcd ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d49f3684f3725e59592e3b">DNA Repair-Deficiency Disorders</a>
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<div class="ralinkpop offscreen_noflow">DNA Repair-Deficiency Disorders<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d49f322f30673f7b17db37">Sebaceous gland carcinoma</a>
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<div class="ralinkpop offscreen_noflow">Sebaceous gland carcinoma<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d49f302f30673f7b17d6e4">Adenoma sebaceum</a>
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<div class="ralinkpop offscreen_noflow">Adenoma sebaceum<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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