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Entry
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- #613325 - RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2
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- OMIM
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<p>
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<span class="h4">#613325</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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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/613325"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS609322"> <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="#molecularGenetics">Molecular Genetics</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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<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 style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=RHABDOID TUMOR PREDISPOSITION SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19153&Typ=Pat" title="Rhabdoid tumor predisposition syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Rhabdoid tumor predisposit… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10913&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Rhabdoid tumor </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK469816/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9252" 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/condition/rhabdoid-tumor-predisposition-syndrome" 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=613325[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231108" title="Rhabdoid tumor predisposition syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Rhabdoid tumor predisposit…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=69077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Rhabdoid tumor</a></div>
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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 class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060997" 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/613325" 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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<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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<a id="title" class="mim-anchor"></a>
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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> 231108, 69077<br />
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<strong>DO:</strong> 0060997<br />
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">ICD+</a>
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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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613325
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</span>
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</span>
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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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RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2
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</h3>
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</div>
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<div>
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<br />
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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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<td>
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<span class="mim-font">
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<a href="/geneMap/19/287?start=-3&limit=10&highlight=287">
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19p13.2
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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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{Rhabdoid tumor predisposition syndrome 2}
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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/613325"> 613325 </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 dominant">AD</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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SMARCA4
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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/603254"> 603254 </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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<div class="btn-group ">
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<a href="/clinicalSynopsis/613325" 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/PS609322" 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/613325" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/613325" 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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<p />
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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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<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 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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</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> 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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- Rhabdoid tumors, malignant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83118000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83118000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156418001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156418001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206743&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206743</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034557</a>]</span><br /> -
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Small cell carcinoma of the ovary, hypercalcemic type <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013716&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013716</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> MISCELLANEOUS </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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- Increased risk of developing early-onset aggressive cancers<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> 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 mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 gene (SMARCA4, <a href="/entry/603254#0001">603254.0001</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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<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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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Rhabdoid tumor predisposition syndrome
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- <a href="/phenotypicSeries/PS609322">PS609322</a>
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- 3 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />mapping key</strong>
|
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus<br />MIM number</strong>
|
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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/19/287?start=-3&limit=10&highlight=287"> 19p13.2 </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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<a href="/entry/613325"> {Rhabdoid tumor predisposition syndrome 2} </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 dominant">AD</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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|
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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>
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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/613325"> 613325 </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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<a href="/entry/603254"> SMARCA4 </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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<a href="/entry/603254"> 603254 </a>
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</span>
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</td>
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</tr>
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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/22/103?start=-3&limit=10&highlight=103"> 22q11.23 </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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<a href="/entry/609322"> {Rhabdoid tumor predisposition syndrome 1} </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 dominant">AD</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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</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/609322"> 609322 </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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<a href="/entry/601607"> SMARCB1 </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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<a href="/entry/601607"> 601607 </a>
|
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</span>
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</td>
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</tr>
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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/22/103?start=-3&limit=10&highlight=103"> 22q11.23 </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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<a href="/entry/609322"> Rhabdoid tumors, somatic </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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</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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</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/609322"> 609322 </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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<a href="/entry/601607"> SMARCB1 </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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<a href="/entry/601607"> 601607 </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 class="text-right small">
|
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
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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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<br />
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</div>
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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.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because rhabdoid tumor predisposition syndrome-2 (RTPS2) is caused by heterozygous germline mutation in the SMARCA4 gene (<a href="/entry/603254">603254</a>) on chromosome 19p13.</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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<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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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Rhabdoid tumor predisposition syndrome-2 (RTPS2) is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by <a href="#1" class="mim-tip-reference" title="Foulkes, W. D., Clarke, B. A., Hasselblatt, M., Majewski, J., Albrecht, S., McCluggage, W. G. <strong>No small surprise--small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour.</strong> J. Path. 233: 209-214, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24752781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24752781</a>] [<a href="https://doi.org/10.1002/path.4362" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24752781">Foulkes et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24752781" 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>See also RTPS1 (<a href="/entry/609322">609322</a>), which is caused by mutation in the SMARCB1 gene (<a href="/entry/601607">601607</a>) on chromosome 22q11.</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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<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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</span>
|
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#6" class="mim-tip-reference" title="Poremba, C., Dockhorn-Dworniczak, B., Merritt, V., Li, C.-Y., Heidl, G., Tauber, P. F., Bocker, W., Yandell, D. W. <strong>Immature teratomas of different origin carried by a pregnant mother and her fetus.</strong> Diagn. Molec. Path. 2: 131-136, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8269278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8269278</a>]" pmid="8269278">Poremba et al. (1993)</a> reported a 27-year-old pregnant woman who was found to have an ovarian mass diagnosed as an immature teratoma. The female fetus showed hydrocephalus due to an intracranial tumor also diagnosed as an immature teratoma, with histologic features similar to the mother's tumor. The infant died at age 9 weeks. Analysis of polymorphic markers indicated that the 2 tumors arose independently in the mother and fetus, suggesting a genetic basis for cancer predisposition in this family. By genetic reanalysis of the mother and daughter reported by <a href="#6" class="mim-tip-reference" title="Poremba, C., Dockhorn-Dworniczak, B., Merritt, V., Li, C.-Y., Heidl, G., Tauber, P. F., Bocker, W., Yandell, D. W. <strong>Immature teratomas of different origin carried by a pregnant mother and her fetus.</strong> Diagn. Molec. Path. 2: 131-136, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8269278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8269278</a>]" pmid="8269278">Poremba et al. (1993)</a>, <a href="#10" class="mim-tip-reference" title="Witkowski, L., Lalonde, E., Zhang, J., Albrecht, S., Hamel, N., Cavallone, L., May, S. T., Nicholson, J. C., Coleman, N., Murray, M. J., Tauber, P. F., Huntsman, D. G., Schonberger, S., Yandell, D., Hasselblatt, M., Tischkowitz, M. D., Majewski, J., Foulkes, W. D. <strong>Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.</strong> J. Path. 231: 35-43, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23775540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23775540</a>] [<a href="https://doi.org/10.1002/path.4225" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23775540">Witkowski et al. (2013)</a> determined that the tumor in both patients was a malignant rhabdoid tumor, consistent with a diagnosis of RTPS2 (see MOLECULAR GENETICS). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23775540+8269278" 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="Longy, M., Toulouse, C., Mage, P., Chauvergne, J., Trojani, M. <strong>Familial cluster of ovarian small cell carcinoma: a new mendelian entity?</strong> J. Med. Genet. 33: 333-335, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8730291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8730291</a>] [<a href="https://doi.org/10.1136/jmg.33.4.333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8730291">Longy et al. (1996)</a> reported a family in which 3 sisters developed SCCOHT between ages 14 and 28 years. Despite treatment, each had an aggressive tumor with recurrence that resulted in death within several months. <a href="#4" class="mim-tip-reference" title="Longy, M., Toulouse, C., Mage, P., Chauvergne, J., Trojani, M. <strong>Familial cluster of ovarian small cell carcinoma: a new mendelian entity?</strong> J. Med. Genet. 33: 333-335, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8730291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8730291</a>] [<a href="https://doi.org/10.1136/jmg.33.4.333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8730291">Longy et al. (1996)</a> suggested that this represented a distinct category of familial ovarian cancer that is distinguished from ovarian epithelial tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8730291" 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="Martinez-Borges, A. R., Petty, J. K., Hurt, G., Stribling, J. T., Press, J. Z., Castellino, S. M. <strong>Familial small cell carcinoma of the ovary.</strong> Pediat. Blood Cancer 53: 1334-1336, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19621450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19621450</a>] [<a href="https://doi.org/10.1002/pbc.22184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19621450">Martinez-Borges et al. (2009)</a> reported an 11-year-old Caucasian girl who presented with SCCOHT. The family history was significant for fatal SCCOHT in the mother at age 24 years and in the mother's monozygotic twin sister at age 26 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19621450" 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="Schneppenheim, R., Fruhwald, M. C., Gesk, S., Hasselblatt, M., Jeibmann, A., Kordes, U., Kreuz, M., Leuschner, I., Subero, J. I. M., Obser, T., Oyen, F., Vater, I., Siebert, R. <strong>Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.</strong> Am. J. Hum. Genet. 86: 279-284, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20137775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20137775</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20137775[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/10.1016/j.ajhg.2010.01.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20137775">Schneppenheim et al. (2010)</a> reported 2 German sisters with highly aggressive malignant embryonal tumors of the brain. At age 8 months, the first girl was found to have a mass originating from the right cerebellopontine angle involving the brainstem. She died a few weeks later. Her sister presented at 7 months of age with increased abdominal circumference and pain. Although imaging studies suggested a stage IV Wilms tumor (<a href="/entry/194070">194070</a>) with metastases to the lungs and mediastinum, neuropathologic analysis showed a rhabdoid tumor. She died at 18 months of distant and local disease. Neuropathology of both tumors showed a SMARCB1-expressive atypical teratoid/rhabdoid tumor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20137775" 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>By candidate gene sequencing in 2 German sisters with early-onset fatal rhabdoid tumors, <a href="#8" class="mim-tip-reference" title="Schneppenheim, R., Fruhwald, M. C., Gesk, S., Hasselblatt, M., Jeibmann, A., Kordes, U., Kreuz, M., Leuschner, I., Subero, J. I. M., Obser, T., Oyen, F., Vater, I., Siebert, R. <strong>Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.</strong> Am. J. Hum. Genet. 86: 279-284, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20137775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20137775</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20137775[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/10.1016/j.ajhg.2010.01.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20137775">Schneppenheim et al. (2010)</a> identified a heterozygous germline truncating mutation in the SMARCA4 gene (R1189X; <a href="/entry/603254#0001">603254.0001</a>). The girls' unaffected father was heterozygous for the germline R1189X mutation, indicating reduced penetrance. Analysis of tumor tissue showed complete loss of SMARCA4 expression and loss of heterozygosity at the SMARCA4 locus. SNP array analysis indicated that partial uniparental disomy of the paternal allele was the cause of LOH in the tumors. <a href="#8" class="mim-tip-reference" title="Schneppenheim, R., Fruhwald, M. C., Gesk, S., Hasselblatt, M., Jeibmann, A., Kordes, U., Kreuz, M., Leuschner, I., Subero, J. I. M., Obser, T., Oyen, F., Vater, I., Siebert, R. <strong>Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.</strong> Am. J. Hum. Genet. 86: 279-284, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20137775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20137775</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20137775[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/10.1016/j.ajhg.2010.01.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20137775">Schneppenheim et al. (2010)</a> noted both SMARCA4 and the tumor suppressor SMARCB1 are members of the ATP-dependent SWI/SNF chromatin-remodeling complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20137775" 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="Kupryjanczyk, J., Dansonka-Mieszkowska, A., Moes-Sosnowska, J., Plisiecka-Halasa, J., Szafron, L., Podgorska, A., Rzepecka, I. K., Konopka, B., Budzilowska, A., Rembiszewska, A., Grajkowska, W., Spiewankiewicz, B. <strong>Ovarian small cell carcinoma of hypercalcemic type--evidence of germline origin and SMARCA4 gene inactivation: a pilot study.</strong> Pol. J. Path. 64: 238-246, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24375037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24375037</a>] [<a href="https://doi.org/10.5114/pjp.2013.39331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24375037">Kupryjanczyk et al. (2013)</a> identified 2 somatic truncating mutations in the SMARCA4 gene in 2 small cell ovarian carcinoma hypercalcemic type tumors (SCCOHT) from 2 unrelated individuals. The SMARCA4 gene was chosen for study after histologic analysis showed a resemblance to atypical teratoid/rhabdoid tumors. Some elements of germ cell tumors, such as immature teratoma and yolk sac tumor, were observed in both tumors. Immunohistochemical staining was positive for SMARCA1, but negative for SMARCA4. <a href="#3" class="mim-tip-reference" title="Kupryjanczyk, J., Dansonka-Mieszkowska, A., Moes-Sosnowska, J., Plisiecka-Halasa, J., Szafron, L., Podgorska, A., Rzepecka, I. K., Konopka, B., Budzilowska, A., Rembiszewska, A., Grajkowska, W., Spiewankiewicz, B. <strong>Ovarian small cell carcinoma of hypercalcemic type--evidence of germline origin and SMARCA4 gene inactivation: a pilot study.</strong> Pol. J. Path. 64: 238-246, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24375037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24375037</a>] [<a href="https://doi.org/10.5114/pjp.2013.39331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24375037">Kupryjanczyk et al. (2013)</a> concluded that SCCOHT is related to malignant rhabdoid tumor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24375037" 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 mother and daughter with RTPS2, <a href="#10" class="mim-tip-reference" title="Witkowski, L., Lalonde, E., Zhang, J., Albrecht, S., Hamel, N., Cavallone, L., May, S. T., Nicholson, J. C., Coleman, N., Murray, M. J., Tauber, P. F., Huntsman, D. G., Schonberger, S., Yandell, D., Hasselblatt, M., Tischkowitz, M. D., Majewski, J., Foulkes, W. D. <strong>Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.</strong> J. Path. 231: 35-43, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23775540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23775540</a>] [<a href="https://doi.org/10.1002/path.4225" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23775540">Witkowski et al. (2013)</a> identified a germline heterozygous truncating mutation in the SMARCA4 gene (W1178X; <a href="/entry/603254#0008">603254.0008</a>). The patients were originally reported by <a href="#6" class="mim-tip-reference" title="Poremba, C., Dockhorn-Dworniczak, B., Merritt, V., Li, C.-Y., Heidl, G., Tauber, P. F., Bocker, W., Yandell, D. W. <strong>Immature teratomas of different origin carried by a pregnant mother and her fetus.</strong> Diagn. Molec. Path. 2: 131-136, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8269278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8269278</a>]" pmid="8269278">Poremba et al. (1993)</a> as having immature teratomas. <a href="#10" class="mim-tip-reference" title="Witkowski, L., Lalonde, E., Zhang, J., Albrecht, S., Hamel, N., Cavallone, L., May, S. T., Nicholson, J. C., Coleman, N., Murray, M. J., Tauber, P. F., Huntsman, D. G., Schonberger, S., Yandell, D., Hasselblatt, M., Tischkowitz, M. D., Majewski, J., Foulkes, W. D. <strong>Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.</strong> J. Path. 231: 35-43, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23775540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23775540</a>] [<a href="https://doi.org/10.1002/path.4225" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23775540">Witkowski et al. (2013)</a> used whole-exome sequencing and Sanger sequencing to identify the mutation, which arose de novo in the mother. Tumor tissue from both patients also carried a somatic truncating mutation in the SMARCA4 gene, consistent with the '2-hit' hypothesis of tumorigenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23775540+8269278" 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 affected members of 4 unrelated families with RTPS2 presenting as SCCOHT, <a href="#9" class="mim-tip-reference" title="Witkowski, L., Carrot-Zhang, J., Albrecht, S., Fahiminiya, S., Hamel, N., Tomiak, E., Grynspan, D., Saloustros, E., Nadaf, J., Rivera, B., Gilpin, C., Castellsague, E., and 30 others. <strong>Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.</strong> Nature Genet. 46: 438-443, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24658002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24658002</a>] [<a href="https://doi.org/10.1038/ng.2931" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24658002">Witkowski et al. (2014)</a> identified 4 different germline heterozygous mutations in the SMARCA4 gene (<a href="/entry/603254#0009">603254.0009</a>-<a href="/entry/603254#0012">603254.0012</a>). The mutations in the first 3 families were found by whole-exome sequencing and resulted in complete loss of the SMARCA4 protein. Tumor tissue, when available, showed either a somatic inactivating SMARCA4 mutation or loss of heterozygosity at the SMARCA4 locus. Whole-exome or Sanger sequencing identified at least 1 germline or somatic SMARCA4 mutation in 24 of 26 additional cases of SCCOHT as well as in the BIN-67 cell line. Six of 12 apparently nonfamilial cases for which nontumor tissue was available carried a deleterious germline SMARCA4 mutation, indicating that hereditary cases are more common than previously thought. Immunohistochemical studies showed loss of SMARCA4 expression in 38 of 43 SCCOHT tumors; 3 of those that retained SMARCA4 expression were later recategorized as non-SCCOHT. <a href="#9" class="mim-tip-reference" title="Witkowski, L., Carrot-Zhang, J., Albrecht, S., Fahiminiya, S., Hamel, N., Tomiak, E., Grynspan, D., Saloustros, E., Nadaf, J., Rivera, B., Gilpin, C., Castellsague, E., and 30 others. <strong>Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.</strong> Nature Genet. 46: 438-443, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24658002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24658002</a>] [<a href="https://doi.org/10.1038/ng.2931" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24658002">Witkowski et al. (2014)</a> concluded that SCCOHT falls within the category of extracranial rhabdoid tumors, to which it is more similar than to other types of ovarian carcinoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24658002" 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="Jelinic, P., Mueller, J. J., Olvera, N., Dao, F., Scott, S. N., Shah, R., Gao, J., Schultz, N., Gonen, M., Soslow, R. A., Berger, M. F., Levine, D. A. <strong>Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.</strong> Nature Genet. 46: 424-426, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24658004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24658004</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24658004[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.2922" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24658004">Jelinic et al. (2014)</a> identified biallelic inactivating somatic mutations in the SMARCA4 gene in 100% of 12 SCCOHT samples. The mutations were found by exome sequencing of 279 cancer-related genes in these tumors and were confirmed by Sanger sequencing. The findings were consistent with SMARCA4 being a tumor suppressor gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24658004" 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>Using whole-exome or whole-genome sequencing, <a href="#7" class="mim-tip-reference" title="Ramos, P., Karnezis, A. N., Craig, D. W., Sekulic, A., Russell, M. L., Hendricks, W. P., Corneveaux, J. J., Barrett, M. T., Shumansky, K., Yang, Y., Shah, S. P., Prentice, L. M., and 15 others. <strong>Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.</strong> Nature Genet. 46: 427-429, 2014. Note: Erratum: Nature Genet. 46: 759 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24658001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24658001</a>] [<a href="https://doi.org/10.1038/ng.2928" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24658001">Ramos et al. (2014)</a> identified somatic inactivating mutations in the SMARCA4 gene in 6 of 9 SCCOHT tumors and in the SCCOHT cell line BIN-67. Two tumors carried 2 mutations each, indicating biallelic inactivation. Immunohistochemical studies showed that all tumor samples with a SMARCA4 mutation lacked SMARCA4 protein expression. Loss of SMARCA4 was highly specific to SCCOHT; SMARCA4 protein loss was found in only 0.4% (2 of 485) of primary ovarian epithelial, sex cord stromal, and germ cell tumors. The findings indicated that loss of normal SWI/SNF complex function may represent a key tumorigenic step in SCCOHT formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24658001" 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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<strong>REFERENCES</strong>
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<a id="Foulkes2014" class="mim-anchor"></a>
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Foulkes, W. D., Clarke, B. A., Hasselblatt, M., Majewski, J., Albrecht, S., McCluggage, W. G.
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<strong>No small surprise--small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour.</strong>
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J. Path. 233: 209-214, 2014.
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[<a href="https://doi.org/10.1002/path.4362" target="_blank">Full Text</a>]
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<a id="Jelinic2014" class="mim-anchor"></a>
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Jelinic, P., Mueller, J. J., Olvera, N., Dao, F., Scott, S. N., Shah, R., Gao, J., Schultz, N., Gonen, M., Soslow, R. A., Berger, M. F., Levine, D. A.
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<strong>Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.</strong>
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Nature Genet. 46: 424-426, 2014.
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[<a href="https://doi.org/10.1038/ng.2922" target="_blank">Full Text</a>]
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<a id="Kupryjanczyk2013" class="mim-anchor"></a>
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Kupryjanczyk, J., Dansonka-Mieszkowska, A., Moes-Sosnowska, J., Plisiecka-Halasa, J., Szafron, L., Podgorska, A., Rzepecka, I. K., Konopka, B., Budzilowska, A., Rembiszewska, A., Grajkowska, W., Spiewankiewicz, B.
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<strong>Ovarian small cell carcinoma of hypercalcemic type--evidence of germline origin and SMARCA4 gene inactivation: a pilot study.</strong>
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Pol. J. Path. 64: 238-246, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24375037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24375037</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24375037" 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/10.5114/pjp.2013.39331" target="_blank">Full Text</a>]
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<a id="Longy1996" class="mim-anchor"></a>
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Longy, M., Toulouse, C., Mage, P., Chauvergne, J., Trojani, M.
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<strong>Familial cluster of ovarian small cell carcinoma: a new mendelian entity?</strong>
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J. Med. Genet. 33: 333-335, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8730291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8730291</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8730291" 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/10.1136/jmg.33.4.333" target="_blank">Full Text</a>]
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<a id="Martinez-Borges2009" class="mim-anchor"></a>
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Martinez-Borges, A. R., Petty, J. K., Hurt, G., Stribling, J. T., Press, J. Z., Castellino, S. M.
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<strong>Familial small cell carcinoma of the ovary.</strong>
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Pediat. Blood Cancer 53: 1334-1336, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19621450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19621450</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19621450" 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/pbc.22184" target="_blank">Full Text</a>]
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<a id="Poremba1993" class="mim-anchor"></a>
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<p class="mim-text-font">
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Poremba, C., Dockhorn-Dworniczak, B., Merritt, V., Li, C.-Y., Heidl, G., Tauber, P. F., Bocker, W., Yandell, D. W.
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<strong>Immature teratomas of different origin carried by a pregnant mother and her fetus.</strong>
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Diagn. Molec. Path. 2: 131-136, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8269278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8269278</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8269278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Ramos2014" class="mim-anchor"></a>
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Ramos, P., Karnezis, A. N., Craig, D. W., Sekulic, A., Russell, M. L., Hendricks, W. P., Corneveaux, J. J., Barrett, M. T., Shumansky, K., Yang, Y., Shah, S. P., Prentice, L. M., and 15 others.
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<strong>Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.</strong>
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Nature Genet. 46: 427-429, 2014. Note: Erratum: Nature Genet. 46: 759 only, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24658001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24658001</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24658001" 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.2928" target="_blank">Full Text</a>]
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<a id="Schneppenheim2010" class="mim-anchor"></a>
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Schneppenheim, R., Fruhwald, M. C., Gesk, S., Hasselblatt, M., Jeibmann, A., Kordes, U., Kreuz, M., Leuschner, I., Subero, J. I. M., Obser, T., Oyen, F., Vater, I., Siebert, R.
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<strong>Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.</strong>
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Am. J. Hum. Genet. 86: 279-284, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20137775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20137775</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20137775[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=20137775" 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/j.ajhg.2010.01.013" target="_blank">Full Text</a>]
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<a id="Witkowski2014" class="mim-anchor"></a>
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Witkowski, L., Carrot-Zhang, J., Albrecht, S., Fahiminiya, S., Hamel, N., Tomiak, E., Grynspan, D., Saloustros, E., Nadaf, J., Rivera, B., Gilpin, C., Castellsague, E., and 30 others.
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<strong>Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.</strong>
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Nature Genet. 46: 438-443, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24658002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24658002</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24658002" 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.2931" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Witkowski2013" class="mim-anchor"></a>
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<div class="">
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Witkowski, L., Lalonde, E., Zhang, J., Albrecht, S., Hamel, N., Cavallone, L., May, S. T., Nicholson, J. C., Coleman, N., Murray, M. J., Tauber, P. F., Huntsman, D. G., Schonberger, S., Yandell, D., Hasselblatt, M., Tischkowitz, M. D., Majewski, J., Foulkes, W. D.
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<strong>Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.</strong>
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J. Path. 231: 35-43, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23775540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23775540</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23775540" 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/path.4225" target="_blank">Full Text</a>]
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Contributors:
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/11/2014
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Cassandra L. Kniffin : 3/24/2010
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 08/07/2024
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mgross : 02/15/2018<br>carol : 01/17/2018<br>carol : 08/23/2016<br>alopez : 06/19/2014<br>mcolton : 6/17/2014<br>ckniffin : 6/11/2014<br>carol : 3/25/2010<br>ckniffin : 3/24/2010
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<strong>#</strong> 613325
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<h3>
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RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2
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<strong>ORPHA:</strong> 231108, 69077;
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<strong>DO:</strong> 0060997;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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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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<span class="mim-font">
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19p13.2
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<td>
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<span class="mim-font">
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{Rhabdoid tumor predisposition syndrome 2}
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<span class="mim-font">
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613325
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<span class="mim-font">
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Autosomal dominant
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SMARCA4
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603254
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because rhabdoid tumor predisposition syndrome-2 (RTPS2) is caused by heterozygous germline mutation in the SMARCA4 gene (603254) on chromosome 19p13.</p>
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<strong>Description</strong>
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<p>Rhabdoid tumor predisposition syndrome-2 (RTPS2) is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014). </p><p>See also RTPS1 (609322), which is caused by mutation in the SMARCB1 gene (601607) on chromosome 22q11.</p>
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<strong>Clinical Features</strong>
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<p>Poremba et al. (1993) reported a 27-year-old pregnant woman who was found to have an ovarian mass diagnosed as an immature teratoma. The female fetus showed hydrocephalus due to an intracranial tumor also diagnosed as an immature teratoma, with histologic features similar to the mother's tumor. The infant died at age 9 weeks. Analysis of polymorphic markers indicated that the 2 tumors arose independently in the mother and fetus, suggesting a genetic basis for cancer predisposition in this family. By genetic reanalysis of the mother and daughter reported by Poremba et al. (1993), Witkowski et al. (2013) determined that the tumor in both patients was a malignant rhabdoid tumor, consistent with a diagnosis of RTPS2 (see MOLECULAR GENETICS). </p><p>Longy et al. (1996) reported a family in which 3 sisters developed SCCOHT between ages 14 and 28 years. Despite treatment, each had an aggressive tumor with recurrence that resulted in death within several months. Longy et al. (1996) suggested that this represented a distinct category of familial ovarian cancer that is distinguished from ovarian epithelial tumors. </p><p>Martinez-Borges et al. (2009) reported an 11-year-old Caucasian girl who presented with SCCOHT. The family history was significant for fatal SCCOHT in the mother at age 24 years and in the mother's monozygotic twin sister at age 26 years. </p><p>Schneppenheim et al. (2010) reported 2 German sisters with highly aggressive malignant embryonal tumors of the brain. At age 8 months, the first girl was found to have a mass originating from the right cerebellopontine angle involving the brainstem. She died a few weeks later. Her sister presented at 7 months of age with increased abdominal circumference and pain. Although imaging studies suggested a stage IV Wilms tumor (194070) with metastases to the lungs and mediastinum, neuropathologic analysis showed a rhabdoid tumor. She died at 18 months of distant and local disease. Neuropathology of both tumors showed a SMARCB1-expressive atypical teratoid/rhabdoid tumor. </p>
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<strong>Molecular Genetics</strong>
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<p>By candidate gene sequencing in 2 German sisters with early-onset fatal rhabdoid tumors, Schneppenheim et al. (2010) identified a heterozygous germline truncating mutation in the SMARCA4 gene (R1189X; 603254.0001). The girls' unaffected father was heterozygous for the germline R1189X mutation, indicating reduced penetrance. Analysis of tumor tissue showed complete loss of SMARCA4 expression and loss of heterozygosity at the SMARCA4 locus. SNP array analysis indicated that partial uniparental disomy of the paternal allele was the cause of LOH in the tumors. Schneppenheim et al. (2010) noted both SMARCA4 and the tumor suppressor SMARCB1 are members of the ATP-dependent SWI/SNF chromatin-remodeling complex. </p><p>Kupryjanczyk et al. (2013) identified 2 somatic truncating mutations in the SMARCA4 gene in 2 small cell ovarian carcinoma hypercalcemic type tumors (SCCOHT) from 2 unrelated individuals. The SMARCA4 gene was chosen for study after histologic analysis showed a resemblance to atypical teratoid/rhabdoid tumors. Some elements of germ cell tumors, such as immature teratoma and yolk sac tumor, were observed in both tumors. Immunohistochemical staining was positive for SMARCA1, but negative for SMARCA4. Kupryjanczyk et al. (2013) concluded that SCCOHT is related to malignant rhabdoid tumor. </p><p>In a mother and daughter with RTPS2, Witkowski et al. (2013) identified a germline heterozygous truncating mutation in the SMARCA4 gene (W1178X; 603254.0008). The patients were originally reported by Poremba et al. (1993) as having immature teratomas. Witkowski et al. (2013) used whole-exome sequencing and Sanger sequencing to identify the mutation, which arose de novo in the mother. Tumor tissue from both patients also carried a somatic truncating mutation in the SMARCA4 gene, consistent with the '2-hit' hypothesis of tumorigenesis. </p><p>In affected members of 4 unrelated families with RTPS2 presenting as SCCOHT, Witkowski et al. (2014) identified 4 different germline heterozygous mutations in the SMARCA4 gene (603254.0009-603254.0012). The mutations in the first 3 families were found by whole-exome sequencing and resulted in complete loss of the SMARCA4 protein. Tumor tissue, when available, showed either a somatic inactivating SMARCA4 mutation or loss of heterozygosity at the SMARCA4 locus. Whole-exome or Sanger sequencing identified at least 1 germline or somatic SMARCA4 mutation in 24 of 26 additional cases of SCCOHT as well as in the BIN-67 cell line. Six of 12 apparently nonfamilial cases for which nontumor tissue was available carried a deleterious germline SMARCA4 mutation, indicating that hereditary cases are more common than previously thought. Immunohistochemical studies showed loss of SMARCA4 expression in 38 of 43 SCCOHT tumors; 3 of those that retained SMARCA4 expression were later recategorized as non-SCCOHT. Witkowski et al. (2014) concluded that SCCOHT falls within the category of extracranial rhabdoid tumors, to which it is more similar than to other types of ovarian carcinoma. </p><p>Jelinic et al. (2014) identified biallelic inactivating somatic mutations in the SMARCA4 gene in 100% of 12 SCCOHT samples. The mutations were found by exome sequencing of 279 cancer-related genes in these tumors and were confirmed by Sanger sequencing. The findings were consistent with SMARCA4 being a tumor suppressor gene. </p><p>Using whole-exome or whole-genome sequencing, Ramos et al. (2014) identified somatic inactivating mutations in the SMARCA4 gene in 6 of 9 SCCOHT tumors and in the SCCOHT cell line BIN-67. Two tumors carried 2 mutations each, indicating biallelic inactivation. Immunohistochemical studies showed that all tumor samples with a SMARCA4 mutation lacked SMARCA4 protein expression. Loss of SMARCA4 was highly specific to SCCOHT; SMARCA4 protein loss was found in only 0.4% (2 of 485) of primary ovarian epithelial, sex cord stromal, and germ cell tumors. The findings indicated that loss of normal SWI/SNF complex function may represent a key tumorigenic step in SCCOHT formation. </p>
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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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<p class="mim-text-font">
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Foulkes, W. D., Clarke, B. A., Hasselblatt, M., Majewski, J., Albrecht, S., McCluggage, W. G.
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<strong>No small surprise--small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour.</strong>
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J. Path. 233: 209-214, 2014.
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[PubMed: 24752781]
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[Full Text: https://doi.org/10.1002/path.4362]
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Jelinic, P., Mueller, J. J., Olvera, N., Dao, F., Scott, S. N., Shah, R., Gao, J., Schultz, N., Gonen, M., Soslow, R. A., Berger, M. F., Levine, D. A.
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<strong>Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.</strong>
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Nature Genet. 46: 424-426, 2014.
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[PubMed: 24658004]
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[Full Text: https://doi.org/10.1038/ng.2922]
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Kupryjanczyk, J., Dansonka-Mieszkowska, A., Moes-Sosnowska, J., Plisiecka-Halasa, J., Szafron, L., Podgorska, A., Rzepecka, I. K., Konopka, B., Budzilowska, A., Rembiszewska, A., Grajkowska, W., Spiewankiewicz, B.
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<strong>Ovarian small cell carcinoma of hypercalcemic type--evidence of germline origin and SMARCA4 gene inactivation: a pilot study.</strong>
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Pol. J. Path. 64: 238-246, 2013.
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[PubMed: 24375037]
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[Full Text: https://doi.org/10.5114/pjp.2013.39331]
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<p class="mim-text-font">
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Longy, M., Toulouse, C., Mage, P., Chauvergne, J., Trojani, M.
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<strong>Familial cluster of ovarian small cell carcinoma: a new mendelian entity?</strong>
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J. Med. Genet. 33: 333-335, 1996.
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[PubMed: 8730291]
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[Full Text: https://doi.org/10.1136/jmg.33.4.333]
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Martinez-Borges, A. R., Petty, J. K., Hurt, G., Stribling, J. T., Press, J. Z., Castellino, S. M.
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<strong>Familial small cell carcinoma of the ovary.</strong>
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Pediat. Blood Cancer 53: 1334-1336, 2009.
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[PubMed: 19621450]
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[Full Text: https://doi.org/10.1002/pbc.22184]
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<p class="mim-text-font">
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Poremba, C., Dockhorn-Dworniczak, B., Merritt, V., Li, C.-Y., Heidl, G., Tauber, P. F., Bocker, W., Yandell, D. W.
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<strong>Immature teratomas of different origin carried by a pregnant mother and her fetus.</strong>
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Diagn. Molec. Path. 2: 131-136, 1993.
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[PubMed: 8269278]
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Ramos, P., Karnezis, A. N., Craig, D. W., Sekulic, A., Russell, M. L., Hendricks, W. P., Corneveaux, J. J., Barrett, M. T., Shumansky, K., Yang, Y., Shah, S. P., Prentice, L. M., and 15 others.
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<strong>Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.</strong>
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Nature Genet. 46: 427-429, 2014. Note: Erratum: Nature Genet. 46: 759 only, 2014.
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[PubMed: 24658001]
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[Full Text: https://doi.org/10.1038/ng.2928]
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Schneppenheim, R., Fruhwald, M. C., Gesk, S., Hasselblatt, M., Jeibmann, A., Kordes, U., Kreuz, M., Leuschner, I., Subero, J. I. M., Obser, T., Oyen, F., Vater, I., Siebert, R.
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<strong>Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.</strong>
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Am. J. Hum. Genet. 86: 279-284, 2010.
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[PubMed: 20137775]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.01.013]
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Witkowski, L., Carrot-Zhang, J., Albrecht, S., Fahiminiya, S., Hamel, N., Tomiak, E., Grynspan, D., Saloustros, E., Nadaf, J., Rivera, B., Gilpin, C., Castellsague, E., and 30 others.
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<strong>Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.</strong>
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Nature Genet. 46: 438-443, 2014.
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[PubMed: 24658002]
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[Full Text: https://doi.org/10.1038/ng.2931]
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Witkowski, L., Lalonde, E., Zhang, J., Albrecht, S., Hamel, N., Cavallone, L., May, S. T., Nicholson, J. C., Coleman, N., Murray, M. J., Tauber, P. F., Huntsman, D. G., Schonberger, S., Yandell, D., Hasselblatt, M., Tischkowitz, M. D., Majewski, J., Foulkes, W. D.
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<strong>Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.</strong>
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J. Path. 231: 35-43, 2013.
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[PubMed: 23775540]
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[Full Text: https://doi.org/10.1002/path.4225]
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Cassandra L. Kniffin - updated : 6/11/2014
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Cassandra L. Kniffin : 3/24/2010
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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