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<title>
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Entry
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- #619097 - MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3
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- OMIM
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<span class="h4">#619097</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/619097"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS276300"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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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>
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</a>
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</h4>
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<div><a href="https://clinicaltrials.gov/search?cond=(MISMATCH REPAIR CANCER SYNDROME) OR (MSH6)" 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.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19731&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=619097[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><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252202" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</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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<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>ORPHA:</strong> 252202<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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619097
|
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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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MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3
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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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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<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>
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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>
|
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<span class="mim-font">
|
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<a href="/geneMap/2/245?start=-3&limit=10&highlight=245">
|
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2p16.3
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</a>
|
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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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Mismatch repair cancer syndrome 3
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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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<a href="/entry/619097"> 619097 </a>
|
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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="Autosomal recessive">AR</abbr>
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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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</td>
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<td>
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<span class="mim-font">
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MSH6
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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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<a href="/entry/600678"> 600678 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/619097" 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>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS276300" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', '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>
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<div class="btn-group">
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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/619097" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/619097" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
|
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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>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </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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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><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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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> HEAD & NECK </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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<div>
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<span class="h5 mim-font">
|
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<em> Eyes </em>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Lisch nodules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009737</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009737</a>]</span><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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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Adenomatous colonic polyps <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/428054006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">428054006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0850572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0850572</a>]</span><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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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cafe-au-lait spots <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201281002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201281002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L81.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L81.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221263</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000957</a>]</span><br /> -
|
|
Axillary freckling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860335&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860335</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000997</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000997</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> IMMUNOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Immunoglobulin class switch recombination deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542990</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
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</div>
|
|
|
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|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Astrocytoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1157043006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1157043006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004114</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009592</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009592</a>]</span><br /> -
|
|
Glioblastoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1163375002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1163375002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/393563007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">393563007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017636</a>, <a href="https://bioportal.bioontology.org/search?q=C1621958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1621958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012174" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012174</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012174" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012174</a>]</span><br /> -
|
|
Oligodendroglioma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156974002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156974002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/443936004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">443936004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028945&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028945</a>, <a href="https://bioportal.bioontology.org/search?q=C0751396&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751396</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033681" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033681</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033681" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033681</a>]</span><br /> -
|
|
Medulloblastoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156923005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156923005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/443333004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">443333004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025149</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002885" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002885</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002885" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002885</a>]</span><br /> -
|
|
Colorectal adenocarcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/408645001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">408645001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1319315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1319315</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040275" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040275</a>]</span><br /> -
|
|
Leukemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93143009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93143009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162768007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162768007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C95" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C95</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C95.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C95.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C95.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C95.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/208.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">208.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">208</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023418&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023418</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001909</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001909</a>]</span><br /> -
|
|
Lymphoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1163043007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1163043007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/188676008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">188676008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/118600007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">118600007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C85.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C85.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024299</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002665</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002665</a>]</span><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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<strong> MOLECULAR BASIS </strong>
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<span class="mim-font">
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- Caused by mutation in the mutS homolog 6 gene (MSH6, <a href="/entry/600769#0012">600769.0012</a>)<br />
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<h5>
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Mismatch repair cancer syndrome
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- <a href="/phenotypicSeries/PS276300">PS276300</a>
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- 4 Entries
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<strong>Location</strong>
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<span class="mim-font">
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<a href="/geneMap/2/239?start=-3&limit=10&highlight=239"> 2p21-p16.3 </a>
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<span class="mim-font">
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<a href="/entry/619096"> Mismatch repair cancer syndrome 2 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<span class="mim-font">
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<a href="/entry/619096"> 619096 </a>
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<span class="mim-font">
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<a href="/entry/609309"> MSH2 </a>
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<span class="mim-font">
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<a href="/entry/609309"> 609309 </a>
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<a href="/geneMap/2/245?start=-3&limit=10&highlight=245"> 2p16.3 </a>
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<span class="mim-font">
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<a href="/entry/619097"> Mismatch repair cancer syndrome 3 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<span class="mim-font">
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<a href="/entry/619097"> 619097 </a>
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<span class="mim-font">
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<a href="/entry/600678"> MSH6 </a>
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<span class="mim-font">
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<a href="/entry/600678"> 600678 </a>
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<span class="mim-font">
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<a href="/geneMap/3/163?start=-3&limit=10&highlight=163"> 3p22.2 </a>
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<span class="mim-font">
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<a href="/entry/276300"> Mismatch repair cancer syndrome 1 </a>
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</span>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<span class="mim-font">
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<a href="/entry/276300"> 276300 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/120436"> MLH1 </a>
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<span class="mim-font">
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<a href="/entry/120436"> 120436 </a>
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<span class="mim-font">
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<a href="/geneMap/7/51?start=-3&limit=10&highlight=51"> 7p22.1 </a>
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<span class="mim-font">
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<a href="/entry/619101"> Mismatch repair cancer syndrome 4 </a>
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</span>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<td>
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<span class="mim-font">
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<a href="/entry/619101"> 619101 </a>
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<span class="mim-font">
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<a href="/entry/600259"> PMS2 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/600259"> 600259 </a>
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</span>
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</table>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<br />
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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 mismatch repair cancer syndrome-3 (MMRCS3) is caused by homozygous or compound heterozygous mutation in the MSH6 gene (<a href="/entry/600678">600678</a>) on chromosome 2p16.</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Description</strong>
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<p>Mismatch repair cancer syndrome-3 (MMRCS3) is an autosomal recessive childhood cancer predisposition syndrome characterized by brain tumors, hematologic malignancy, and gastrointestinal tumors. Multiple cafe-au-lait spots, axillary freckling, and, rarely, Lisch nodules reminiscent of neurofibromatosis type I (NF1; <a href="/entry/162200">162200</a>) may be present (<a href="#2" class="mim-tip-reference" title="Hegde, M. R., Chong, B., Blazo, M. E., Chin, L. H. E., Ward, P. A., Chintagumpala, M. M., Kim, J. Y., Plon, S. E., Richards, C. S. <strong>A homozygous mutation in MSH6 causes Turcot syndrome.</strong> Clin. Cancer Res. 11: 4689-4693, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16000562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16000562</a>] [<a href="https://doi.org/10.1158/1078-0432.CCR-04-2025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16000562">Hegde et al., 2005</a>, <a href="#4" class="mim-tip-reference" title="Ostergaard, J. R., Sunde, L., Okkels, H. <strong>Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.</strong> Am. J. Med. Genet. 139A: 96-105, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16283678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16283678</a>] [<a href="https://doi.org/10.1002/ajmg.a.30998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16283678">Ostergaard et al., 2005</a>). Microsatellite instability may be detected in tumor samples (<a href="#2" class="mim-tip-reference" title="Hegde, M. R., Chong, B., Blazo, M. E., Chin, L. H. E., Ward, P. A., Chintagumpala, M. M., Kim, J. Y., Plon, S. E., Richards, C. S. <strong>A homozygous mutation in MSH6 causes Turcot syndrome.</strong> Clin. Cancer Res. 11: 4689-4693, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16000562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16000562</a>] [<a href="https://doi.org/10.1158/1078-0432.CCR-04-2025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16000562">Hegde et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16000562+16283678" 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>For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (<a href="/entry/276300">276300</a>).</p>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<p><a href="#3" class="mim-tip-reference" title="Menko, F. H., Kaspers, G. L., Meijer, G. A., Claes, K., van Hagen, J. M., Gille, J. J. P. <strong>A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer.</strong> Fam. Cancer 3: 123-127, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15340263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15340263</a>] [<a href="https://doi.org/10.1023/B:FAME.0000039893.19289.18" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15340263">Menko et al. (2004)</a> reported a 10-year-old boy who presented with diplopia and headache due to a malignant oligodendroglioma in the mesencephalon which was treated by partial resection, radiotherapy, and chemotherapy. At age 12 years he developed adenocarcinoma of the rectosigmoid. Six cafe-au-lait spots were noted. He died at age 12 years due to brain tumor recurrence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15340263" 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="#2" class="mim-tip-reference" title="Hegde, M. R., Chong, B., Blazo, M. E., Chin, L. H. E., Ward, P. A., Chintagumpala, M. M., Kim, J. Y., Plon, S. E., Richards, C. S. <strong>A homozygous mutation in MSH6 causes Turcot syndrome.</strong> Clin. Cancer Res. 11: 4689-4693, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16000562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16000562</a>] [<a href="https://doi.org/10.1158/1078-0432.CCR-04-2025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16000562">Hegde et al. (2005)</a> studied 2 sibs from a Pakistani family, a boy with lymphoma and colorectal cancer diagnosed at ages 5 and 8 years, respectively, and his sister who developed glioblastoma multiforme at age 8 years. Both children had cafe-au-lait spots and axillary freckling. The boy died at age 9 years and the girl at age 10 years. Microsatellite instability assay performed on the glioblastoma from the sister indicated instability in more than 40% of markers tested compared to germline DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16000562" 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="#4" class="mim-tip-reference" title="Ostergaard, J. R., Sunde, L., Okkels, H. <strong>Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.</strong> Am. J. Med. Genet. 139A: 96-105, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16283678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16283678</a>] [<a href="https://doi.org/10.1002/ajmg.a.30998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16283678">Ostergaard et al. (2005)</a> reported 2 sibs with a clinical diagnosis of NF1 who developed tumors of the central nervous system (CNS) at an early age. At age 9 years, the boy developed a pilocytic astrocytoma, which was resected. At that time cafe-au-lait spots and axillary freckling were noted. The tumor was found to have recurred 6 months later and was characterized as an anaplastic astrocytoma. While undergoing radiation treatment for the recurring brain tumor, T-cell lymphoma was detected. Despite treatment, the lymphoma infiltrated the heart, resulting in the patient's death. The boy's sister had cafe-au-lait spots by 3 months of age and developed a spinal cord glioblastoma at age 2 years that resulted in loss of ability to walk. At that time axillary freckling was noted. Ten months later she developed a brain tumor. She died 4 months later. Both sibs had a deficiency of IgA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16283678" 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="Auclair, J., Leroux, D., Desseigne, F., Lasset, C., Saurin, J. C., Joly, M. O., Pinson, S., Xu, X. L., Montmain, G., Ruano, E., Navarro, C., Puisieux, A., Wang, Q. <strong>Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.</strong> Hum. Mutat. 28: 1084-1090, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17557300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17557300</a>] [<a href="https://doi.org/10.1002/humu.20569" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17557300">Auclair et al. (2007)</a> reported a family in which 2 sisters had features suggestive of NF1, including cafe-au-lait spots and Lisch nodules, associated with fatal glioblastoma and adenomatous colonic polyps, respectively. There was no family history of NF1 and no mutations were identified in the NF1 gene. Family history revealed a maternal grand-aunt with endometrial cancer at age 59 and several paternal relatives with possible colon polyps. Neoplastic colonic tissue from the surviving sister with polyps showed absence of the MSH6 protein and microsatellite instability. The proband had 11 adenomatous polyps 1 to 3 cm in diameter extending the entire length of the colon, some of which showed a high degree of dysplasia. She developed an oligodendroglioma at age 19 years, and at age 24 was found to have 2 synchronous colon adenocarcinomas, one in the cecum and the other in the transverse colon. She died 1 year later from rapid malignant evolution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17557300" 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="Poley, J.-W., Wagner, A., Hoogmans, M. M. C. P., Menko, F. H., Tops, C., Kros, J. M., Reddingius, R. E., Meijers-Heijboer, H., Kuipers, E. J., Dinjens, W. N. M. <strong>Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.</strong> Cancer 109: 2349-2356, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17440981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17440981</a>] [<a href="https://doi.org/10.1002/cncr.22697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17440981">Poley et al. (2007)</a> studied a boy of Moroccan descent with non-Hodgkin lymphoma, oligodendroglioma, and cafe-au-lait spots. The lymphoma and oligodendroglioma both showed low microsatellite instability and absence of staining for the MSH6 protein. Normal tissue was also MSH6-negative. Further genetic analysis could not be performed. A brother with cafe-au-lait spots had died of medulloblastoma at age 8 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17440981" 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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<p>The transmission pattern of MMRCS3 in the family studied by <a href="#3" class="mim-tip-reference" title="Menko, F. H., Kaspers, G. L., Meijer, G. A., Claes, K., van Hagen, J. M., Gille, J. J. P. <strong>A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer.</strong> Fam. Cancer 3: 123-127, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15340263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15340263</a>] [<a href="https://doi.org/10.1023/B:FAME.0000039893.19289.18" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15340263">Menko et al. (2004)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15340263" 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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<p>In a boy with childhood onset of malignant oligodendroglioma, colonic adenocarcinoma, and cafe-au-lait spots, <a href="#3" class="mim-tip-reference" title="Menko, F. H., Kaspers, G. L., Meijer, G. A., Claes, K., van Hagen, J. M., Gille, J. J. P. <strong>A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer.</strong> Fam. Cancer 3: 123-127, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15340263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15340263</a>] [<a href="https://doi.org/10.1023/B:FAME.0000039893.19289.18" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15340263">Menko et al. (2004)</a> identified a homozygous mutation in the MSH6 gene (<a href="/entry/600678#0014">600678.0014</a>). No germline mutations were identified in the NF1 gene. Both of the boy's consanguineous healthy parents carried the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15340263" 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 a Pakistani girl with glioblastoma multiforme and early death, <a href="#2" class="mim-tip-reference" title="Hegde, M. R., Chong, B., Blazo, M. E., Chin, L. H. E., Ward, P. A., Chintagumpala, M. M., Kim, J. Y., Plon, S. E., Richards, C. S. <strong>A homozygous mutation in MSH6 causes Turcot syndrome.</strong> Clin. Cancer Res. 11: 4689-4693, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16000562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16000562</a>] [<a href="https://doi.org/10.1158/1078-0432.CCR-04-2025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16000562">Hegde et al. (2005)</a> identified a homozygous mutation in the MSH6 gene (<a href="/entry/600678#0015">600678.0015</a>). Her brother had colonic adenocarcinoma and lymphoma, but DNA was not available for testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16000562" 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 2 sibs with brain tumor-polyposis syndrome, <a href="#4" class="mim-tip-reference" title="Ostergaard, J. R., Sunde, L., Okkels, H. <strong>Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.</strong> Am. J. Med. Genet. 139A: 96-105, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16283678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16283678</a>] [<a href="https://doi.org/10.1002/ajmg.a.30998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16283678">Ostergaard et al. (2005)</a> identified compound heterozygosity for 2 mutations in the MSH6 gene (<a href="/entry/600678#0012">600678.0012</a>, <a href="/entry/600678#0013">600678.0013</a>). A boy developed an anaplastic astrocytoma at age 9.4 years and later developed a T-cell lymphoma. His sister had a glioblastoma of the spinal cord at age 2 years. Both children had multiple cafe-au-lait spots without other features of NF1. Three additional heterozygous family members had colon and/or endometrial cancer. <a href="#4" class="mim-tip-reference" title="Ostergaard, J. R., Sunde, L., Okkels, H. <strong>Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.</strong> Am. J. Med. Genet. 139A: 96-105, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16283678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16283678</a>] [<a href="https://doi.org/10.1002/ajmg.a.30998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16283678">Ostergaard et al. (2005)</a> concluded that the phenotype of cafe-au-lait spots, hematologic malignancies, and glioma results from a lack of activity of the mismatch repair (MMR) complex. The NF1-like features likely result from somatic mutations in the NF1 gene secondary to MMR deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16283678" 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 a girl with MMRCS3 who had multiple adenomatous colonic polyps with a high degree of dysplasia at the age of 9 years, as well as cafe-au-lait spots and Lisch nodules, <a href="#1" class="mim-tip-reference" title="Auclair, J., Leroux, D., Desseigne, F., Lasset, C., Saurin, J. C., Joly, M. O., Pinson, S., Xu, X. L., Montmain, G., Ruano, E., Navarro, C., Puisieux, A., Wang, Q. <strong>Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.</strong> Hum. Mutat. 28: 1084-1090, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17557300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17557300</a>] [<a href="https://doi.org/10.1002/humu.20569" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17557300">Auclair et al. (2007)</a> identified compound heterozygous mutations in the MSH6 gene (<a href="/entry/600678#0016">600678.0016</a>, <a href="/entry/600678#0017">600678.0017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17557300" 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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Auclair, J., Leroux, D., Desseigne, F., Lasset, C., Saurin, J. C., Joly, M. O., Pinson, S., Xu, X. L., Montmain, G., Ruano, E., Navarro, C., Puisieux, A., Wang, Q.
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<strong>Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.</strong>
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Hum. Mutat. 28: 1084-1090, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17557300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17557300</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17557300" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hegde, M. R., Chong, B., Blazo, M. E., Chin, L. H. E., Ward, P. A., Chintagumpala, M. M., Kim, J. Y., Plon, S. E., Richards, C. S.
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<strong>A homozygous mutation in MSH6 causes Turcot syndrome.</strong>
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Clin. Cancer Res. 11: 4689-4693, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16000562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16000562</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16000562" 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/10.1158/1078-0432.CCR-04-2025" target="_blank">Full Text</a>]
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Menko, F. H., Kaspers, G. L., Meijer, G. A., Claes, K., van Hagen, J. M., Gille, J. J. P.
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<strong>A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer.</strong>
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Fam. Cancer 3: 123-127, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15340263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15340263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15340263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.</strong>
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Am. J. Med. Genet. 139A: 96-105, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16283678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16283678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16283678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Poley, J.-W., Wagner, A., Hoogmans, M. M. C. P., Menko, F. H., Tops, C., Kros, J. M., Reddingius, R. E., Meijers-Heijboer, H., Kuipers, E. J., Dinjens, W. N. M.
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<strong>Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.</strong>
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Cancer 109: 2349-2356, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17440981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17440981</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17440981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3
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<strong>ORPHA:</strong> 252202;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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<th>
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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2p16.3
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</td>
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<td>
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<span class="mim-font">
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Mismatch repair cancer syndrome 3
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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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619097
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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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Autosomal recessive
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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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3
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<span class="mim-font">
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MSH6
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<td>
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<span class="mim-font">
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600678
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</table>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that mismatch repair cancer syndrome-3 (MMRCS3) is caused by homozygous or compound heterozygous mutation in the MSH6 gene (600678) on chromosome 2p16.</p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</div>
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<span class="mim-text-font">
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<p>Mismatch repair cancer syndrome-3 (MMRCS3) is an autosomal recessive childhood cancer predisposition syndrome characterized by brain tumors, hematologic malignancy, and gastrointestinal tumors. Multiple cafe-au-lait spots, axillary freckling, and, rarely, Lisch nodules reminiscent of neurofibromatosis type I (NF1; 162200) may be present (Hegde et al., 2005, Ostergaard et al., 2005). Microsatellite instability may be detected in tumor samples (Hegde et al., 2005). </p><p>For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300).</p>
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</span>
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<div>
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<br />
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</div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Menko et al. (2004) reported a 10-year-old boy who presented with diplopia and headache due to a malignant oligodendroglioma in the mesencephalon which was treated by partial resection, radiotherapy, and chemotherapy. At age 12 years he developed adenocarcinoma of the rectosigmoid. Six cafe-au-lait spots were noted. He died at age 12 years due to brain tumor recurrence. </p><p>Hegde et al. (2005) studied 2 sibs from a Pakistani family, a boy with lymphoma and colorectal cancer diagnosed at ages 5 and 8 years, respectively, and his sister who developed glioblastoma multiforme at age 8 years. Both children had cafe-au-lait spots and axillary freckling. The boy died at age 9 years and the girl at age 10 years. Microsatellite instability assay performed on the glioblastoma from the sister indicated instability in more than 40% of markers tested compared to germline DNA. </p><p>Ostergaard et al. (2005) reported 2 sibs with a clinical diagnosis of NF1 who developed tumors of the central nervous system (CNS) at an early age. At age 9 years, the boy developed a pilocytic astrocytoma, which was resected. At that time cafe-au-lait spots and axillary freckling were noted. The tumor was found to have recurred 6 months later and was characterized as an anaplastic astrocytoma. While undergoing radiation treatment for the recurring brain tumor, T-cell lymphoma was detected. Despite treatment, the lymphoma infiltrated the heart, resulting in the patient's death. The boy's sister had cafe-au-lait spots by 3 months of age and developed a spinal cord glioblastoma at age 2 years that resulted in loss of ability to walk. At that time axillary freckling was noted. Ten months later she developed a brain tumor. She died 4 months later. Both sibs had a deficiency of IgA. </p><p>Auclair et al. (2007) reported a family in which 2 sisters had features suggestive of NF1, including cafe-au-lait spots and Lisch nodules, associated with fatal glioblastoma and adenomatous colonic polyps, respectively. There was no family history of NF1 and no mutations were identified in the NF1 gene. Family history revealed a maternal grand-aunt with endometrial cancer at age 59 and several paternal relatives with possible colon polyps. Neoplastic colonic tissue from the surviving sister with polyps showed absence of the MSH6 protein and microsatellite instability. The proband had 11 adenomatous polyps 1 to 3 cm in diameter extending the entire length of the colon, some of which showed a high degree of dysplasia. She developed an oligodendroglioma at age 19 years, and at age 24 was found to have 2 synchronous colon adenocarcinomas, one in the cecum and the other in the transverse colon. She died 1 year later from rapid malignant evolution. </p><p>Poley et al. (2007) studied a boy of Moroccan descent with non-Hodgkin lymphoma, oligodendroglioma, and cafe-au-lait spots. The lymphoma and oligodendroglioma both showed low microsatellite instability and absence of staining for the MSH6 protein. Normal tissue was also MSH6-negative. Further genetic analysis could not be performed. A brother with cafe-au-lait spots had died of medulloblastoma at age 8 years. </p>
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</span>
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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>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of MMRCS3 in the family studied by Menko et al. (2004) was consistent with autosomal recessive inheritance. </p>
|
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</span>
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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>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a boy with childhood onset of malignant oligodendroglioma, colonic adenocarcinoma, and cafe-au-lait spots, Menko et al. (2004) identified a homozygous mutation in the MSH6 gene (600678.0014). No germline mutations were identified in the NF1 gene. Both of the boy's consanguineous healthy parents carried the mutation. </p><p>In a Pakistani girl with glioblastoma multiforme and early death, Hegde et al. (2005) identified a homozygous mutation in the MSH6 gene (600678.0015). Her brother had colonic adenocarcinoma and lymphoma, but DNA was not available for testing. </p><p>In 2 sibs with brain tumor-polyposis syndrome, Ostergaard et al. (2005) identified compound heterozygosity for 2 mutations in the MSH6 gene (600678.0012, 600678.0013). A boy developed an anaplastic astrocytoma at age 9.4 years and later developed a T-cell lymphoma. His sister had a glioblastoma of the spinal cord at age 2 years. Both children had multiple cafe-au-lait spots without other features of NF1. Three additional heterozygous family members had colon and/or endometrial cancer. Ostergaard et al. (2005) concluded that the phenotype of cafe-au-lait spots, hematologic malignancies, and glioma results from a lack of activity of the mismatch repair (MMR) complex. The NF1-like features likely result from somatic mutations in the NF1 gene secondary to MMR deficiency. </p><p>In a girl with MMRCS3 who had multiple adenomatous colonic polyps with a high degree of dysplasia at the age of 9 years, as well as cafe-au-lait spots and Lisch nodules, Auclair et al. (2007) identified compound heterozygous mutations in the MSH6 gene (600678.0016, 600678.0017). </p>
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</span>
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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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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Auclair, J., Leroux, D., Desseigne, F., Lasset, C., Saurin, J. C., Joly, M. O., Pinson, S., Xu, X. L., Montmain, G., Ruano, E., Navarro, C., Puisieux, A., Wang, Q.
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<strong>Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.</strong>
|
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Hum. Mutat. 28: 1084-1090, 2007.
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[PubMed: 17557300]
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[Full Text: https://doi.org/10.1002/humu.20569]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Hegde, M. R., Chong, B., Blazo, M. E., Chin, L. H. E., Ward, P. A., Chintagumpala, M. M., Kim, J. Y., Plon, S. E., Richards, C. S.
|
|
<strong>A homozygous mutation in MSH6 causes Turcot syndrome.</strong>
|
|
Clin. Cancer Res. 11: 4689-4693, 2005.
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[PubMed: 16000562]
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[Full Text: https://doi.org/10.1158/1078-0432.CCR-04-2025]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Menko, F. H., Kaspers, G. L., Meijer, G. A., Claes, K., van Hagen, J. M., Gille, J. J. P.
|
|
<strong>A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer.</strong>
|
|
Fam. Cancer 3: 123-127, 2004.
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[PubMed: 15340263]
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[Full Text: https://doi.org/10.1023/B:FAME.0000039893.19289.18]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ostergaard, J. R., Sunde, L., Okkels, H.
|
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<strong>Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.</strong>
|
|
Am. J. Med. Genet. 139A: 96-105, 2005.
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[PubMed: 16283678]
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[Full Text: https://doi.org/10.1002/ajmg.a.30998]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Poley, J.-W., Wagner, A., Hoogmans, M. M. C. P., Menko, F. H., Tops, C., Kros, J. M., Reddingius, R. E., Meijers-Heijboer, H., Kuipers, E. J., Dinjens, W. N. M.
|
|
<strong>Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.</strong>
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Cancer 109: 2349-2356, 2007.
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[PubMed: 17440981]
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[Full Text: https://doi.org/10.1002/cncr.22697]
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</p>
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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 class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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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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Anne M. Stumpf : 11/13/2020
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</span>
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</div>
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Edit History:
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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 : 11/24/2020
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