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<title>
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Entry
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- #608089 - ENDOMETRIAL CANCER
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- OMIM
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<span class="h4">#608089</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/608089"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(ENDOMETRIAL CANCER) OR (MSH6 OR CDH1 OR MLH3 OR MSH3)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8312" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/pten" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608089[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:1380" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/608089" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:1380" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 254878006<br />
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<strong>DO:</strong> 1380<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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608089
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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ENDOMETRIAL CANCER
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
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</tr>
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</thead>
|
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<tbody>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/245?start=-3&limit=10&highlight=245">
|
|
2p16.3
|
|
</a>
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
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{Endometrial cancer, familial}
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608089"> 608089 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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MSH6
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<a href="/entry/600678"> 600678 </a>
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5q14.1
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<span class="mim-font">
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<a href="/entry/608089"> 608089 </a>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/600887"> 600887 </a>
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<a href="/geneMap/14/395?start=-3&limit=10&highlight=395">
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14q24.3
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<span class="mim-font">
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{Endometrial cancer, susceptibility to}
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<span class="mim-font">
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<a href="/entry/608089"> 608089 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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MLH3
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<a href="/entry/604395"> 604395 </a>
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<a href="/geneMap/16/582?start=-3&limit=10&highlight=582">
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16q22.1
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<span class="mim-font">
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Endometrial carcinoma, somatic
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<span class="mim-font">
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<a href="/entry/608089"> 608089 </a>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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CDH1
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<span class="mim-font">
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<a href="/entry/192090"> 192090 </a>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/608089" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/608089" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/608089" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Somatic mutation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124975008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124975008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866227</a>, <a href="https://bioportal.bioontology.org/search?q=C0544886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span><br /> -
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Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEOPLASIA </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Endometrial cancer <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/188192002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">188192002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254878006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254878006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C54.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007103&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007103</a>, <a href="https://bioportal.bioontology.org/search?q=C0476089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0476089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012114</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Often seen in cancer predisposition syndromes such as hereditary nonpolyposis colorectal cancer (see <a href="/entry/614350">614350</a> and <a href="/entry/604395">604395</a>)<br />
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</span>
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</div>
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</div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by somatic mutation in the mutS homolog 3 gene (MSH3, <a href="/entry/600887#0001">600887.0001</a>)<br /> -
|
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Caused by somatic mutation in the mutS homolog 6 gene (MSH6, <a href="/entry/600678#0005">600678.0005</a>)<br /> -
|
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Susceptibility conferred by mutation in the DNA mismatch repair protein MLH3 gene (MLH3, <a href="/entry/604395#0006">604395.0006</a>)<br /> -
|
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Caused by somatic mutation in the cadherin 1 gene (CDH1, <a href="/entry/192090#0001">192090.0001</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<p>A number sign (#) is used with this entry because of evidence that mutations in various genes are responsible for susceptibility to endometrial cancer.</p><p>Approximately 20% of endometrial cancers demonstrate microsatellite instability (MSI) (<a href="#10" class="mim-tip-reference" title="Simpkins, S. B., Bocker, T., Swisher, E. M., Mutch, D. G., Gersell, D. J., Kovatich, A. J., Palazzo, J. P., Fishel, R., Goodfellow, P. J. <strong>MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers.</strong> Hum. Molec. Genet. 8: 661-666, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10072435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10072435</a>] [<a href="https://doi.org/10.1093/hmg/8.4.661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10072435">Simpkins et al., 1999</a>), a reflection of mutations in mismatch repair genes. The mismatch repair genes that have been identified as having a role in endometrial cancer include MSH2 (<a href="/entry/609309">609309</a>), MSH3 (<a href="/entry/600887">600887</a>), MSH6 (<a href="/entry/600678">600678</a>), MLH1 (<a href="/entry/120436">120436</a>), and MLH3 (<a href="/entry/604395">604395</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10072435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In some families, endometrial cancer is associated with colorectal cancer in the same individual or individuals with hereditary nonpolyposis colorectal cancer type 1 (HNPCC1) or HNPCC2, also known as Lynch syndrome (<a href="/entry/120435">120435</a>). 'Lynch syndrome II' refers to extracolonic cancers, including endometrial cancers.</p><p>Mutation in the PTEN1 gene (<a href="/entry/601728">601728</a>) and somatic mutations in the CDH1 (<a href="/entry/192090">192090</a>) and FGFR2 (<a href="/entry/176943">176943</a>) genes have also been demonstrated in endometrial cancers.</p><p><a href="#6" class="mim-tip-reference" title="Liu, V. W. S., Wang, Y., Yang, H.-J., Tsang, P. C. K., Ng, T.-Y., Wong, L.-C., Nagley, P., Ngan, H. Y. S. <strong>Mitochondrial DNA variant 16189T-to-C is associated with susceptibility to endometrial cancer. (Letter)</strong> Hum. Mutat. 22: 173-174, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12872259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12872259</a>] [<a href="https://doi.org/10.1002/humu.10244" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12872259">Liu et al. (2003)</a> found an association between the common 16189T-C transition within the D loop region of the mitochondrial chromosome and endometrial cancer; the mutation had previously been found to be associated with type II diabetes (<a href="/entry/125853">125853</a>) (<a href="#9" class="mim-tip-reference" title="Poulton, J., Scott-Brown, M., Cooper, A., Marchington, D. R., Phillips, D. I. W. <strong>A common mitochondrial DNA variant is associated with insulin resistance in adult life.</strong> Diabetologia 41: 54-58, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9498630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9498630</a>] [<a href="https://doi.org/10.1007/s001250050866" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9498630">Poulton et al., 1998</a>) and dilated cardiomyopathy (<a href="#4" class="mim-tip-reference" title="Khogali, S. S., Mayosi, B. M., Beattie, J. M., McKenna, W. J., Watkins, H., Poulton, J. <strong>A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations.</strong> Lancet 357: 1265-1267, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11418155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11418155</a>] [<a href="https://doi.org/10.1016/S0140-6736(00)04422-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11418155">Khogali et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11418155+9498630+12872259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Barnetson, R. A., Devlin, L., Miller, J., Farrington, S. M., Slater, S., Drake, A. C., Campbell, H., Dunlop, M. G., Porteous, M. E. <strong>Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer.</strong> Clin. Genet. 72: 551-555, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17956577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17956577</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00900.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17956577">Barnetson et al. (2007)</a> reported a patient with endometrial adenocarcinoma and sebaceous carcinoma of the face who was compound heterozygous for 2 common mutations in the MUTYH gene (Y165C; <a href="/entry/604933#0001">604933.0001</a> and G382D; <a href="/entry/604933#0002">604933.0002</a>). Colonic adenomas were not reported, but a paternal aunt reportedly had colorectal cancer in her thirties. <a href="#1" class="mim-tip-reference" title="Barnetson, R. A., Devlin, L., Miller, J., Farrington, S. M., Slater, S., Drake, A. C., Campbell, H., Dunlop, M. G., Porteous, M. E. <strong>Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer.</strong> Clin. Genet. 72: 551-555, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17956577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17956577</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00900.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17956577">Barnetson et al. (2007)</a> noted that the phenotype associated with biallelic MUTYH mutations may include extracolonic manifestations, including endometrial cancer and sebaceous carcinoma, as seen in other inherited colorectal cancer syndromes such as Muir-Torre syndrome (<a href="/entry/158320">158320</a>) and Lynch syndrome (<a href="/entry/120435">120435</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17956577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Pollock, P. M., Gartside, M. G., Dejeza, L. C., Powell, M. A., Mallon, M. A., Cancer Genome Project, Davies, H., Mohammadi, M., Futreal, P. A., Stratton, M. R., Trent, J. M., Goodfellow, P. J. <strong>Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.</strong> Oncogene 26: 7158-7162, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17525745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17525745</a>] [<a href="https://doi.org/10.1038/sj.onc.1210529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17525745">Pollock et al. (2007)</a> identified 11 different somatic FGFR2 mutations (see, e.g., <a href="/entry/176943#0010">176943.0010</a> and <a href="/entry/176943#0015">176943.0015</a>) in 3 (30%) of 10 endometrial cancer cell lines and in 19 (10%) of 187 primary endometrial carcinomas. The majority of the mutations were identical to germline activating mutations that cause skeletal dysplasias. There was no apparent correlation between FGFR2 mutation and overall survival. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17525745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Dutt, A., Salvesen, H. B., Chen, T.-H., Ramos, A. H., Onofrio, R. C., Hatton, C., Nicoletti, R., Winckler, W., Grewal, R., Hanna, M., Wyhs, N., Ziaugra, L., and 13 others. <strong>Drug-sensitive FGFR2 mutations in endometrial carcinoma.</strong> Proc. Nat. Acad. Sci. 105: 8713-8717, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18552176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18552176</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18552176[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0803379105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18552176">Dutt et al. (2008)</a> found somatic FGFR2 mutations in 15 (12.3%) of 122 primary endometrial carcinomas, as well as in 2 of 42 lung squamous cell carcinomas and in 2 of 46 cervical carcinomas. Many of the mutations were identical to those associated with congenital craniofacial developmental disorders. Ectopic expression of the mutations in mouse fibroblasts demonstrated constitutive activation and oncogenicity, and inhibition of FGFR2 kinase activity in endometrial cell lines bearing such FGFR2 mutations inhibited transformation and survival. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18552176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Le Gallo, M., O'Hara, A. J., Rudd, M. L., Urick, M. E., Hansen, N. F., O'Neil, N. J., Price, J. C., Zhang, S., England, B. M., Godwin, A. K., Sgroi, D. C., NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program, Hieter, P., Mullikan, J. C., Merino, M. J., Bell, D. W. <strong>Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.</strong> Nature Genet. 44: 1310-1315, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23104009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23104009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23104009[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23104009">Le Gallo et al. (2012)</a> used whole-exome sequencing to comprehensively search for somatic mutations in 13 primary serous endometrial tumors, and subsequently resequenced 18 genes that were mutated in more than 1 tumor and/or were components of an enriched functional grouping from 40 additional serous tumors. <a href="#5" class="mim-tip-reference" title="Le Gallo, M., O'Hara, A. J., Rudd, M. L., Urick, M. E., Hansen, N. F., O'Neil, N. J., Price, J. C., Zhang, S., England, B. M., Godwin, A. K., Sgroi, D. C., NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program, Hieter, P., Mullikan, J. C., Merino, M. J., Bell, D. W. <strong>Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.</strong> Nature Genet. 44: 1310-1315, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23104009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23104009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23104009[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23104009">Le Gallo et al. (2012)</a> identified high frequencies of somatic mutations in CHD4 (<a href="/entry/603277">603277</a>) (17%), EP300 (<a href="/entry/602700">602700</a>) (8%), ARID1A (<a href="/entry/603024">603024</a>) (6%), TSPYL2 (<a href="/entry/300564">300564</a>) (6%), FBXW7 (<a href="/entry/606278">606278</a>) (29%), SPOP (<a href="/entry/602650">602650</a>) (8%), MAP3K4 (<a href="/entry/602425">602425</a>) (6%), and ABCC9 (<a href="/entry/601439">601439</a>) (6%). Overall, 36.5% of serous tumors had a mutated chromatin-remodeling gene, and 35% had a mutated ubiquitin ligase complex gene, implicating frequent mutational disruption of these processes in the molecular pathogenesis of one of the deadliest forms of endometrial cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23104009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The <a href="#2" class="mim-tip-reference" title="Cancer Genome Atlas Research Network. <strong>Integrated genomic characterization of endometrial carcinoma.</strong> Nature 497: 67-73, 2013. Note: Erratum: Nature 500: 242 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23636398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23636398</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23636398[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature12113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23636398">Cancer Genome Atlas Research Network (2013)</a> performed an integrated genomic, transcriptomic, and proteomic characterization of 373 endometrial carcinomas using array- and sequencing-based technologies. Uterine serous tumors and approximately 25% of high-grade endometrioid tumors had extensive copy number alterations, few DNA methylation changes, low estrogen receptor (see <a href="/entry/133430">133430</a>)/progesterone receptor (<a href="/entry/607311">607311</a>) levels, and frequent TP53 (<a href="/entry/191170">191170</a>) mutations. Most endometrioid tumors had few copy number alterations or TP53 mutations, but frequent mutations in PTEN (<a href="/entry/601728">601728</a>), CTNNB1 (<a href="/entry/116806">116806</a>), PIK3CA (<a href="/entry/171834">171834</a>), ARID1A, and KRAS (<a href="/entry/190070">190070</a>) and novel mutations in the SWI/SNF chromatin remodeling complex gene ARID5B (<a href="/entry/608538">608538</a>). A subset of endometrioid tumors had a markedly increased transversion mutation frequency and hotspot mutations in POLE (<a href="/entry/174762">174762</a>). The <a href="#2" class="mim-tip-reference" title="Cancer Genome Atlas Research Network. <strong>Integrated genomic characterization of endometrial carcinoma.</strong> Nature 497: 67-73, 2013. Note: Erratum: Nature 500: 242 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23636398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23636398</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23636398[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature12113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23636398">Cancer Genome Atlas Research Network (2013)</a> concluded that their results classified endometrial cancers into 4 categories: POLE ultramutated, microsatellite instability hypermutated, copy number-low, and copy number-high. Uterine serous carcinomas share genomic features with ovarian serous and basal-like breast carcinomas. The <a href="#2" class="mim-tip-reference" title="Cancer Genome Atlas Research Network. <strong>Integrated genomic characterization of endometrial carcinoma.</strong> Nature 497: 67-73, 2013. Note: Erratum: Nature 500: 242 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23636398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23636398</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23636398[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature12113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23636398">Cancer Genome Atlas Research Network (2013)</a> demonstrated that the genomic features of endometrial carcinomas permit a reclassification that may affect postsurgical adjuvant treatment for women with aggressive tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23636398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Moore, L., Leongamornlert, D., Coorens, T. H. H., Sanders, M. A., Ellis, P., Dentro, S. C., Dawson, K. J., Butler, T., Rahbari, R., Mitchell, T. J., Maura, F., Nangalia, J., and 13 others. <strong>The mutational landscape of normal human endometrial epithelium.</strong> Nature 580: 640-646, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32350471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32350471</a>] [<a href="https://doi.org/10.1038/s41586-020-2214-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32350471">Moore et al. (2020)</a> used whole-genome sequencing to show that normal human endometrial cells are clonal cell populations with total mutation burdens that increase at about 29 base substitutions per year and that are many-fold lower than those of endometrial cancers. Normal endometrial glands frequently carry driver mutations in cancer genes, the burden of which increases with age and decreases with parity. Cell clones with drivers often originate during the first decades of life and subsequently progressively colonize the epithelial lining of the endometrium. <a href="#7" class="mim-tip-reference" title="Moore, L., Leongamornlert, D., Coorens, T. H. H., Sanders, M. A., Ellis, P., Dentro, S. C., Dawson, K. J., Butler, T., Rahbari, R., Mitchell, T. J., Maura, F., Nangalia, J., and 13 others. <strong>The mutational landscape of normal human endometrial epithelium.</strong> Nature 580: 640-646, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32350471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32350471</a>] [<a href="https://doi.org/10.1038/s41586-020-2214-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32350471">Moore et al. (2020)</a> concluded that their results showed that mutational landscapes differ markedly between normal tissues, perhaps shaped by differences in their structure and physiology, and indicated that the procession of neoplastic change that leads to endometrial cancer is initiated early in life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32350471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Barnetson, R. A., Devlin, L., Miller, J., Farrington, S. M., Slater, S., Drake, A. C., Campbell, H., Dunlop, M. G., Porteous, M. E.
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<strong>Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer.</strong>
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Clin. Genet. 72: 551-555, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17956577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17956577</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17956577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cancer Genome Atlas Research Network.
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Nature 497: 67-73, 2013. Note: Erratum: Nature 500: 242 only, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23636398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23636398</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23636398[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23636398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dutt, A., Salvesen, H. B., Chen, T.-H., Ramos, A. H., Onofrio, R. C., Hatton, C., Nicoletti, R., Winckler, W., Grewal, R., Hanna, M., Wyhs, N., Ziaugra, L., and 13 others.
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<strong>Drug-sensitive FGFR2 mutations in endometrial carcinoma.</strong>
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Proc. Nat. Acad. Sci. 105: 8713-8717, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18552176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18552176</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18552176[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18552176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0803379105" target="_blank">Full Text</a>]
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Khogali, S. S., Mayosi, B. M., Beattie, J. M., McKenna, W. J., Watkins, H., Poulton, J.
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<strong>A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations.</strong>
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Lancet 357: 1265-1267, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11418155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11418155</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11418155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/S0140-6736(00)04422-6" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Le Gallo2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Le Gallo, M., O'Hara, A. J., Rudd, M. L., Urick, M. E., Hansen, N. F., O'Neil, N. J., Price, J. C., Zhang, S., England, B. M., Godwin, A. K., Sgroi, D. C., NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program, Hieter, P., Mullikan, J. C., Merino, M. J., Bell, D. W.
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<strong>Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.</strong>
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Nature Genet. 44: 1310-1315, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23104009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23104009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23104009[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23104009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.2455" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Liu2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Liu, V. W. S., Wang, Y., Yang, H.-J., Tsang, P. C. K., Ng, T.-Y., Wong, L.-C., Nagley, P., Ngan, H. Y. S.
|
|
<strong>Mitochondrial DNA variant 16189T-to-C is associated with susceptibility to endometrial cancer. (Letter)</strong>
|
|
Hum. Mutat. 22: 173-174, 2003.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12872259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12872259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12872259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.10244" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Moore2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Moore, L., Leongamornlert, D., Coorens, T. H. H., Sanders, M. A., Ellis, P., Dentro, S. C., Dawson, K. J., Butler, T., Rahbari, R., Mitchell, T. J., Maura, F., Nangalia, J., and 13 others.
|
|
<strong>The mutational landscape of normal human endometrial epithelium.</strong>
|
|
Nature 580: 640-646, 2020.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32350471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32350471</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32350471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41586-020-2214-z" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Pollock2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pollock, P. M., Gartside, M. G., Dejeza, L. C., Powell, M. A., Mallon, M. A., Cancer Genome Project, Davies, H., Mohammadi, M., Futreal, P. A., Stratton, M. R., Trent, J. M., Goodfellow, P. J.
|
|
<strong>Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.</strong>
|
|
Oncogene 26: 7158-7162, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17525745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17525745</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17525745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.onc.1210529" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Poulton1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Poulton, J., Scott-Brown, M., Cooper, A., Marchington, D. R., Phillips, D. I. W.
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<strong>A common mitochondrial DNA variant is associated with insulin resistance in adult life.</strong>
|
|
Diabetologia 41: 54-58, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9498630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9498630</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9498630" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s001250050866" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Simpkins1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Simpkins, S. B., Bocker, T., Swisher, E. M., Mutch, D. G., Gersell, D. J., Kovatich, A. J., Palazzo, J. P., Fishel, R., Goodfellow, P. J.
|
|
<strong>MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers.</strong>
|
|
Hum. Molec. Genet. 8: 661-666, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10072435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10072435</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10072435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/8.4.661" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 06/08/2020
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 7/9/2013<br>Ada Hamosh - updated : 2/1/2013<br>Cassandra L. Kniffin - updated : 9/4/2009<br>Cassandra L. Kniffin - updated : 9/9/2008
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 9/9/2003
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 06/08/2020
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/27/2013<br>alopez : 7/9/2013<br>alopez : 7/9/2013<br>alopez : 7/9/2013<br>alopez : 2/7/2013<br>terry : 2/1/2013<br>wwang : 9/4/2009<br>wwang : 9/2/2009<br>ckniffin : 7/31/2009<br>wwang : 6/9/2009<br>ckniffin : 9/9/2008<br>carol : 1/21/2008<br>ckniffin : 1/16/2008<br>ckniffin : 1/14/2008<br>mgross : 4/14/2005<br>tkritzer : 9/17/2003<br>tkritzer : 9/12/2003<br>tkritzer : 9/12/2003<br>tkritzer : 9/9/2003
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 608089
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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|
ENDOMETRIAL CANCER
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 254878006;
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<strong>DO:</strong> 1380;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
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<td>
|
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<span class="mim-font">
|
|
2p16.3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Endometrial cancer, familial}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
608089
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant; Somatic mutation
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MSH6
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
600678
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
5q14.1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Endometrial carcinoma, somatic
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
608089
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MSH3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
600887
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
14q24.3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Endometrial cancer, susceptibility to}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
608089
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant; Somatic mutation
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MLH3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
604395
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
16q22.1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Endometrial carcinoma, somatic
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
608089
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CDH1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
192090
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
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|
</div>
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|
<div>
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|
<br />
|
|
</div>
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|
|
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|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
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<p>A number sign (#) is used with this entry because of evidence that mutations in various genes are responsible for susceptibility to endometrial cancer.</p><p>Approximately 20% of endometrial cancers demonstrate microsatellite instability (MSI) (Simpkins et al., 1999), a reflection of mutations in mismatch repair genes. The mismatch repair genes that have been identified as having a role in endometrial cancer include MSH2 (609309), MSH3 (600887), MSH6 (600678), MLH1 (120436), and MLH3 (604395). </p><p>In some families, endometrial cancer is associated with colorectal cancer in the same individual or individuals with hereditary nonpolyposis colorectal cancer type 1 (HNPCC1) or HNPCC2, also known as Lynch syndrome (120435). 'Lynch syndrome II' refers to extracolonic cancers, including endometrial cancers.</p><p>Mutation in the PTEN1 gene (601728) and somatic mutations in the CDH1 (192090) and FGFR2 (176943) genes have also been demonstrated in endometrial cancers.</p><p>Liu et al. (2003) found an association between the common 16189T-C transition within the D loop region of the mitochondrial chromosome and endometrial cancer; the mutation had previously been found to be associated with type II diabetes (125853) (Poulton et al., 1998) and dilated cardiomyopathy (Khogali et al., 2001). </p><p>Barnetson et al. (2007) reported a patient with endometrial adenocarcinoma and sebaceous carcinoma of the face who was compound heterozygous for 2 common mutations in the MUTYH gene (Y165C; 604933.0001 and G382D; 604933.0002). Colonic adenomas were not reported, but a paternal aunt reportedly had colorectal cancer in her thirties. Barnetson et al. (2007) noted that the phenotype associated with biallelic MUTYH mutations may include extracolonic manifestations, including endometrial cancer and sebaceous carcinoma, as seen in other inherited colorectal cancer syndromes such as Muir-Torre syndrome (158320) and Lynch syndrome (120435). </p><p>Pollock et al. (2007) identified 11 different somatic FGFR2 mutations (see, e.g., 176943.0010 and 176943.0015) in 3 (30%) of 10 endometrial cancer cell lines and in 19 (10%) of 187 primary endometrial carcinomas. The majority of the mutations were identical to germline activating mutations that cause skeletal dysplasias. There was no apparent correlation between FGFR2 mutation and overall survival. </p><p>Dutt et al. (2008) found somatic FGFR2 mutations in 15 (12.3%) of 122 primary endometrial carcinomas, as well as in 2 of 42 lung squamous cell carcinomas and in 2 of 46 cervical carcinomas. Many of the mutations were identical to those associated with congenital craniofacial developmental disorders. Ectopic expression of the mutations in mouse fibroblasts demonstrated constitutive activation and oncogenicity, and inhibition of FGFR2 kinase activity in endometrial cell lines bearing such FGFR2 mutations inhibited transformation and survival. </p><p>Le Gallo et al. (2012) used whole-exome sequencing to comprehensively search for somatic mutations in 13 primary serous endometrial tumors, and subsequently resequenced 18 genes that were mutated in more than 1 tumor and/or were components of an enriched functional grouping from 40 additional serous tumors. Le Gallo et al. (2012) identified high frequencies of somatic mutations in CHD4 (603277) (17%), EP300 (602700) (8%), ARID1A (603024) (6%), TSPYL2 (300564) (6%), FBXW7 (606278) (29%), SPOP (602650) (8%), MAP3K4 (602425) (6%), and ABCC9 (601439) (6%). Overall, 36.5% of serous tumors had a mutated chromatin-remodeling gene, and 35% had a mutated ubiquitin ligase complex gene, implicating frequent mutational disruption of these processes in the molecular pathogenesis of one of the deadliest forms of endometrial cancer. </p><p>The Cancer Genome Atlas Research Network (2013) performed an integrated genomic, transcriptomic, and proteomic characterization of 373 endometrial carcinomas using array- and sequencing-based technologies. Uterine serous tumors and approximately 25% of high-grade endometrioid tumors had extensive copy number alterations, few DNA methylation changes, low estrogen receptor (see 133430)/progesterone receptor (607311) levels, and frequent TP53 (191170) mutations. Most endometrioid tumors had few copy number alterations or TP53 mutations, but frequent mutations in PTEN (601728), CTNNB1 (116806), PIK3CA (171834), ARID1A, and KRAS (190070) and novel mutations in the SWI/SNF chromatin remodeling complex gene ARID5B (608538). A subset of endometrioid tumors had a markedly increased transversion mutation frequency and hotspot mutations in POLE (174762). The Cancer Genome Atlas Research Network (2013) concluded that their results classified endometrial cancers into 4 categories: POLE ultramutated, microsatellite instability hypermutated, copy number-low, and copy number-high. Uterine serous carcinomas share genomic features with ovarian serous and basal-like breast carcinomas. The Cancer Genome Atlas Research Network (2013) demonstrated that the genomic features of endometrial carcinomas permit a reclassification that may affect postsurgical adjuvant treatment for women with aggressive tumors. </p><p>Moore et al. (2020) used whole-genome sequencing to show that normal human endometrial cells are clonal cell populations with total mutation burdens that increase at about 29 base substitutions per year and that are many-fold lower than those of endometrial cancers. Normal endometrial glands frequently carry driver mutations in cancer genes, the burden of which increases with age and decreases with parity. Cell clones with drivers often originate during the first decades of life and subsequently progressively colonize the epithelial lining of the endometrium. Moore et al. (2020) concluded that their results showed that mutational landscapes differ markedly between normal tissues, perhaps shaped by differences in their structure and physiology, and indicated that the procession of neoplastic change that leads to endometrial cancer is initiated early in life. </p>
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<strong>REFERENCES</strong>
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<strong>Integrated genomic characterization of endometrial carcinoma.</strong>
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Nature 497: 67-73, 2013. Note: Erratum: Nature 500: 242 only, 2013.
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Dutt, A., Salvesen, H. B., Chen, T.-H., Ramos, A. H., Onofrio, R. C., Hatton, C., Nicoletti, R., Winckler, W., Grewal, R., Hanna, M., Wyhs, N., Ziaugra, L., and 13 others.
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Khogali, S. S., Mayosi, B. M., Beattie, J. M., McKenna, W. J., Watkins, H., Poulton, J.
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<strong>A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations.</strong>
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Lancet 357: 1265-1267, 2001.
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Le Gallo, M., O'Hara, A. J., Rudd, M. L., Urick, M. E., Hansen, N. F., O'Neil, N. J., Price, J. C., Zhang, S., England, B. M., Godwin, A. K., Sgroi, D. C., NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program, Hieter, P., Mullikan, J. C., Merino, M. J., Bell, D. W.
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<strong>Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.</strong>
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Nature Genet. 44: 1310-1315, 2012.
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Liu, V. W. S., Wang, Y., Yang, H.-J., Tsang, P. C. K., Ng, T.-Y., Wong, L.-C., Nagley, P., Ngan, H. Y. S.
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<strong>Mitochondrial DNA variant 16189T-to-C is associated with susceptibility to endometrial cancer. (Letter)</strong>
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Hum. Mutat. 22: 173-174, 2003.
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[PubMed: 12872259]
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Moore, L., Leongamornlert, D., Coorens, T. H. H., Sanders, M. A., Ellis, P., Dentro, S. C., Dawson, K. J., Butler, T., Rahbari, R., Mitchell, T. J., Maura, F., Nangalia, J., and 13 others.
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<strong>The mutational landscape of normal human endometrial epithelium.</strong>
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Nature 580: 640-646, 2020.
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[PubMed: 32350471]
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[Full Text: https://doi.org/10.1038/s41586-020-2214-z]
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Pollock, P. M., Gartside, M. G., Dejeza, L. C., Powell, M. A., Mallon, M. A., Cancer Genome Project, Davies, H., Mohammadi, M., Futreal, P. A., Stratton, M. R., Trent, J. M., Goodfellow, P. J.
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<strong>Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.</strong>
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Oncogene 26: 7158-7162, 2007.
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[PubMed: 17525745]
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[Full Text: https://doi.org/10.1038/sj.onc.1210529]
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Poulton, J., Scott-Brown, M., Cooper, A., Marchington, D. R., Phillips, D. I. W.
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<strong>A common mitochondrial DNA variant is associated with insulin resistance in adult life.</strong>
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Diabetologia 41: 54-58, 1998.
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[PubMed: 9498630]
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[Full Text: https://doi.org/10.1007/s001250050866]
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Simpkins, S. B., Bocker, T., Swisher, E. M., Mutch, D. G., Gersell, D. J., Kovatich, A. J., Palazzo, J. P., Fishel, R., Goodfellow, P. J.
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<strong>MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers.</strong>
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Hum. Molec. Genet. 8: 661-666, 1999.
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[PubMed: 10072435]
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[Full Text: https://doi.org/10.1093/hmg/8.4.661]
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