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Entry
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- #616415 - FAMILIAL ADENOMATOUS POLYPOSIS 3; FAP3
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- OMIM
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<p>
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<span class="h4">#616415</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/616415"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS175100"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=FAMILIAL ADENOMATOUS POLYPOSIS" 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 style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=18912&Typ=Pat" title="Attenuated familial adenomatous polyposis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Attenuated familial adenom… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23666&Typ=Pat" title="NTHL1-related attenuated familial adenomatous polyposis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">NTHL1-related attenuated f… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=105&Typ=Pat" title="Familial adenomatous polyposis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial adenomatous polyp… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK555473/" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=616415[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=220460" title="Attenuated familial adenomatous polyposis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Attenuated familial adenom…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=454840" title="NTHL1-related attenuated familial adenomatous polyposis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">NTHL1-related attenuated f…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=733" title="Familial adenomatous polyposis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Familial adenomatous polyp…</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080411" 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/616415" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0080411" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span 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="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 220460, 454840, 733<br />
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<strong>DO:</strong> 0080411<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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616415
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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FAMILIAL ADENOMATOUS POLYPOSIS 3; FAP3
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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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Location
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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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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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<a href="/geneMap/16/92?start=-3&limit=10&highlight=92">
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16p13.3
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<span class="mim-font">
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Familial adenomatous polyposis 3
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<span class="mim-font">
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<a href="/entry/616415"> 616415 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<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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NTHL1
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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/602656"> 602656 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/616415" 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/PS175100" 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>
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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">
|
|
PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/616415" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/616415" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
|
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Colorectal adenomas, multiple <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228834&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228834</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399432003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399432003</a>]</span><br />
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Increased susceptibility to multiple carcinomas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228833</a>]</span><br /> -
|
|
Colorectal cancer <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1286877004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1286877004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5848476&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848476</a>, <a href="https://bioportal.bioontology.org/search?q=C0009402&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009402</a>]</span><br /> -
|
|
Endometrial cancer <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/188192002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">188192002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254878006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254878006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C54.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007103&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007103</a>, <a href="https://bioportal.bioontology.org/search?q=C0476089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0476089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012114</a>]</span><br /> -
|
|
Skin cancer <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/372130007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">372130007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007114</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008069" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008069</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008069" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008069</a>]</span><br /> -
|
|
Breast cancer <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254838004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254838004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254837009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254837009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C50-C50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C50-C50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678222&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678222</a>, <a href="https://bioportal.bioontology.org/search?q=C0006142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0006142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003002</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003002</a>]</span><br /> -
|
|
Bladder cancer <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399326009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399326009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/126885006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">126885006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255108000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C67.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C67.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C67" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C67</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/188.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">188.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/188" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">188</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0699885&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0699885</a>, <a href="https://bioportal.bioontology.org/search?q=C0005695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005695</a>, <a href="https://bioportal.bioontology.org/search?q=C0005684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005684</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009725</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002862" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002862</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009725</a>]</span><br /> -
|
|
Meningioma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/724171006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">724171006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1157019008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1157019008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D32.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D32.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025286&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025286</a>, <a href="https://bioportal.bioontology.org/search?q=C0281784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0281784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002858" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002858</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002858" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002858</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
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|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Increased susceptibility to multiple carcinomas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228833</a>]</span><br /> -
|
|
Carcinomas tend to develop in mid or late adulthood<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
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|
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</div>
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the endonuclease III-like 1 gene (NTHL1, <a href="/entry/602656#0001">602656.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
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|
|
</div>
|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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|
|
|
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
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|
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|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Familial adenomatous polyposis
|
|
- <a href="/phenotypicSeries/PS175100">PS175100</a>
|
|
- 7 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<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/1/554?start=-3&limit=10&highlight=554"> 1p34.1 </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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<a href="/entry/608456"> Adenomas, multiple colorectal </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</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/608456"> 608456 </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/604933"> MUTYH </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/604933"> 604933 </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/5/297?start=-3&limit=10&highlight=297"> 5q14.1 </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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<a href="/entry/617100"> Familial adenomatous polyposis 4 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</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>
|
|
<span class="mim-font">
|
|
<a href="/entry/617100"> 617100 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/600887"> MSH3 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600887"> 600887 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/369?start=-3&limit=10&highlight=369"> 5q22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/175100"> Brain tumor-polyposis syndrome 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/175100"> 175100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611731"> APC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611731"> 611731 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/369?start=-3&limit=10&highlight=369"> 5q22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/175100"> Adenomatous polyposis coli </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/175100"> 175100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611731"> APC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611731"> 611731 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/369?start=-3&limit=10&highlight=369"> 5q22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/175100"> Gardner syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/175100"> 175100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611731"> APC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611731"> 611731 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/369?start=-3&limit=10&highlight=369"> 5q22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/175100"> Adenoma, periampullary, somatic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/175100"> 175100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611731"> APC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611731"> 611731 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/92?start=-3&limit=10&highlight=92"> 16p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616415"> Familial adenomatous polyposis 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616415"> 616415 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602656"> NTHL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602656"> 602656 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
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|
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|
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</div>
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|
|
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|
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<div>
|
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<br />
|
|
</div>
|
|
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|
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|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
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|
|
|
|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<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 of evidence that familial adenomatous polyposis-3 (FAP3) is caused by homozygous or compound heterozygous mutation in the NTHL1 gene (<a href="/entry/602656">602656</a>) on chromosome 16p13.</p>
|
|
</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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|
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|
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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>Familial adenomatous polyposis-3 is an autosomal recessive cancer predisposition syndrome characterized by the development of multiple colonic adenomas, often with progression to colorectal cancer. Carcinomas affecting other tissues may also occur, and the carcinomas tend to develop in middle age or late adulthood (summary by <a href="#2" class="mim-tip-reference" title="Weren, R. D. A., Ligtenberg, M. J. L., Kets, C. M., de Voer, R. M., Verwiel, E. T. P., Spruijt, L., van Zelst-Stams, W. A. G., Jongmans, M. C., Gilissen, C., Hehir-Kwa, J. Y., Hoischen, A., Shendure, J., and 9 others. <strong>A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.</strong> Nature Genet. 47: 668-671, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25938944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25938944</a>] [<a href="https://doi.org/10.1038/ng.3287" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25938944">Weren et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25938944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (<a href="/entry/175100">175100</a>).</p>
|
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</span>
|
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<div>
|
|
<br />
|
|
</div>
|
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</div>
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|
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<div>
|
|
<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="#2" class="mim-tip-reference" title="Weren, R. D. A., Ligtenberg, M. J. L., Kets, C. M., de Voer, R. M., Verwiel, E. T. P., Spruijt, L., van Zelst-Stams, W. A. G., Jongmans, M. C., Gilissen, C., Hehir-Kwa, J. Y., Hoischen, A., Shendure, J., and 9 others. <strong>A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.</strong> Nature Genet. 47: 668-671, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25938944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25938944</a>] [<a href="https://doi.org/10.1038/ng.3287" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25938944">Weren et al. (2015)</a> reported 3 unrelated families in which a total of 7 individuals had multiple colonic adenomas (range, 8-50 adenomas). Four patients developed colorectal cancer. All 3 women had either endometrial hyperplasia or endometrial cancer. Additional more variable findings in these patients included duodenal adenomas, duodenal cancer, prostate cancer, psammomatous meningioma, basal cell carcinoma, breast cancer, pancreatic cancer, and non-Hodgkin lymphoma, most of which were found in 1 patient each. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25938944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Rivera, B., Castellsague, E., Bah, I., and others. <strong>Biallelic NTHL1 mutations in a woman with multiple primary tumors. (Letter)</strong> New Eng. J. Med. 373: 1985-1986, 2015. Note: Full author list online. Erratum: New Eng. J. Med. 373: e33, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26559593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26559593</a>] [<a href="https://doi.org/10.1056/NEJMc1506878" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26559593">Rivera et al. (2015)</a> reported a woman of German ancestry who developed colonic adenocarcinoma arising in a villotubular adenoma at age 41, and was later found to have multiple additional extracolonic neoplasms, including bladder carcinoma, intradermal nevi, meningioma, multiple seborrheic keratoses, basal cell carcinoma, multiple colorectal adenomas, squamous cell carcinoma, and invasive ductal breast carcinoma. She died of an unrelated cause at age 59 years. She also had a family history of cancer. <a href="#1" class="mim-tip-reference" title="Rivera, B., Castellsague, E., Bah, I., and others. <strong>Biallelic NTHL1 mutations in a woman with multiple primary tumors. (Letter)</strong> New Eng. J. Med. 373: 1985-1986, 2015. Note: Full author list online. Erratum: New Eng. J. Med. 373: e33, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26559593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26559593</a>] [<a href="https://doi.org/10.1056/NEJMc1506878" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26559593">Rivera et al. (2015)</a> noted that 6 of the 7 patients reported by <a href="#2" class="mim-tip-reference" title="Weren, R. D. A., Ligtenberg, M. J. L., Kets, C. M., de Voer, R. M., Verwiel, E. T. P., Spruijt, L., van Zelst-Stams, W. A. G., Jongmans, M. C., Gilissen, C., Hehir-Kwa, J. Y., Hoischen, A., Shendure, J., and 9 others. <strong>A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.</strong> Nature Genet. 47: 668-671, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25938944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25938944</a>] [<a href="https://doi.org/10.1038/ng.3287" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25938944">Weren et al. (2015)</a> had a diagnosis of multiple primary tumors, suggesting that NTHL1 mutations can cause a wide variety of cancers in addition to colorectal cancer. <a href="#1" class="mim-tip-reference" title="Rivera, B., Castellsague, E., Bah, I., and others. <strong>Biallelic NTHL1 mutations in a woman with multiple primary tumors. (Letter)</strong> New Eng. J. Med. 373: 1985-1986, 2015. Note: Full author list online. Erratum: New Eng. J. Med. 373: e33, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26559593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26559593</a>] [<a href="https://doi.org/10.1056/NEJMc1506878" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26559593">Rivera et al. (2015)</a> suggested the designation 'NTHL1 syndrome' for this cancer predisposition syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25938944+26559593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of FAP3 in the families reported by <a href="#2" class="mim-tip-reference" title="Weren, R. D. A., Ligtenberg, M. J. L., Kets, C. M., de Voer, R. M., Verwiel, E. T. P., Spruijt, L., van Zelst-Stams, W. A. G., Jongmans, M. C., Gilissen, C., Hehir-Kwa, J. Y., Hoischen, A., Shendure, J., and 9 others. <strong>A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.</strong> Nature Genet. 47: 668-671, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25938944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25938944</a>] [<a href="https://doi.org/10.1038/ng.3287" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25938944">Weren et al. (2015)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25938944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 7 affected individuals from 3 unrelated families with familial adenomatous polyposis, <a href="#2" class="mim-tip-reference" title="Weren, R. D. A., Ligtenberg, M. J. L., Kets, C. M., de Voer, R. M., Verwiel, E. T. P., Spruijt, L., van Zelst-Stams, W. A. G., Jongmans, M. C., Gilissen, C., Hehir-Kwa, J. Y., Hoischen, A., Shendure, J., and 9 others. <strong>A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.</strong> Nature Genet. 47: 668-671, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25938944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25938944</a>] [<a href="https://doi.org/10.1038/ng.3287" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25938944">Weren et al. (2015)</a> identified a homozygous truncating mutation in the NTHL1 gene (Q90X; <a href="/entry/602656#0001">602656.0001</a>), which is a base excision repair gene. The mutation was found by whole-exome sequencing of 51 patients from 48 families with a predisposition to colonic adenomatous polyposis, and was confirmed by Sanger sequencing to segregate with the disorder in the 3 families. A heterozygous Q90X mutation was found at a frequency of 0.0036 among 2,329 controls and of 0.0015 in the ExAC database; the highest prevalence of the mutation was found in individuals of European descent. Analysis of patient cells showed that the mutation resulted in nonsense-mediated mRNA decay, consistent with a loss of function. Genetic analysis of 3 carcinomas and 5 adenomas from different patients homozygous for Q90X showed a nonhypermutated profile enriched for C-to-T transitions, and the carcinomas carried somatic mutations in several genes, including APC (<a href="/entry/611731">611731</a>), TP53 (<a href="/entry/191170">191170</a>), KRAS (<a href="/entry/190070">190070</a>), and PIK3CA (<a href="/entry/171834">171834</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25938944" 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 German woman with FAP3 and multiple additional extracolonic neoplasms, <a href="#1" class="mim-tip-reference" title="Rivera, B., Castellsague, E., Bah, I., and others. <strong>Biallelic NTHL1 mutations in a woman with multiple primary tumors. (Letter)</strong> New Eng. J. Med. 373: 1985-1986, 2015. Note: Full author list online. Erratum: New Eng. J. Med. 373: e33, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26559593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26559593</a>] [<a href="https://doi.org/10.1056/NEJMc1506878" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26559593">Rivera et al. (2015)</a> identified compound heterozygous mutations in the NTHL1 gene (<a href="/entry/602656#0001">602656.0001</a> and <a href="/entry/602656#0002">602656.0002</a>). Six different tumors from the proband were found to carry somatic mutations in driver genes, such as FGFR3 (<a href="/entry/134934">134934</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26559593" 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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Rivera, B., Castellsague, E., Bah, I., and others.
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<strong>Biallelic NTHL1 mutations in a woman with multiple primary tumors. (Letter)</strong>
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New Eng. J. Med. 373: 1985-1986, 2015. Note: Full author list online. Erratum: New Eng. J. Med. 373: e33, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26559593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26559593</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26559593" 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/10.1056/NEJMc1506878" target="_blank">Full Text</a>]
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Weren, R. D. A., Ligtenberg, M. J. L., Kets, C. M., de Voer, R. M., Verwiel, E. T. P., Spruijt, L., van Zelst-Stams, W. A. G., Jongmans, M. C., Gilissen, C., Hehir-Kwa, J. Y., Hoischen, A., Shendure, J., and 9 others.
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<strong>A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.</strong>
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Nature Genet. 47: 668-671, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25938944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25938944</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25938944" 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.3287" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 11/19/2015
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Cassandra L. Kniffin : 6/9/2015
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carol : 08/12/2016
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carol : 08/11/2016<br>carol : 11/20/2015<br>ckniffin : 11/19/2015<br>carol : 6/10/2015<br>mcolton : 6/9/2015<br>ckniffin : 6/9/2015
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FAMILIAL ADENOMATOUS POLYPOSIS 3; FAP3
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<strong>ORPHA:</strong> 220460, 454840, 733;
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<strong>DO:</strong> 0080411;
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Familial adenomatous polyposis 3
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Autosomal recessive
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<p>A number sign (#) is used with this entry because of evidence that familial adenomatous polyposis-3 (FAP3) is caused by homozygous or compound heterozygous mutation in the NTHL1 gene (602656) on chromosome 16p13.</p>
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<p>Familial adenomatous polyposis-3 is an autosomal recessive cancer predisposition syndrome characterized by the development of multiple colonic adenomas, often with progression to colorectal cancer. Carcinomas affecting other tissues may also occur, and the carcinomas tend to develop in middle age or late adulthood (summary by Weren et al., 2015). </p><p>For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (175100).</p>
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<p>Weren et al. (2015) reported 3 unrelated families in which a total of 7 individuals had multiple colonic adenomas (range, 8-50 adenomas). Four patients developed colorectal cancer. All 3 women had either endometrial hyperplasia or endometrial cancer. Additional more variable findings in these patients included duodenal adenomas, duodenal cancer, prostate cancer, psammomatous meningioma, basal cell carcinoma, breast cancer, pancreatic cancer, and non-Hodgkin lymphoma, most of which were found in 1 patient each. </p><p>Rivera et al. (2015) reported a woman of German ancestry who developed colonic adenocarcinoma arising in a villotubular adenoma at age 41, and was later found to have multiple additional extracolonic neoplasms, including bladder carcinoma, intradermal nevi, meningioma, multiple seborrheic keratoses, basal cell carcinoma, multiple colorectal adenomas, squamous cell carcinoma, and invasive ductal breast carcinoma. She died of an unrelated cause at age 59 years. She also had a family history of cancer. Rivera et al. (2015) noted that 6 of the 7 patients reported by Weren et al. (2015) had a diagnosis of multiple primary tumors, suggesting that NTHL1 mutations can cause a wide variety of cancers in addition to colorectal cancer. Rivera et al. (2015) suggested the designation 'NTHL1 syndrome' for this cancer predisposition syndrome. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of FAP3 in the families reported by Weren et al. (2015) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In 7 affected individuals from 3 unrelated families with familial adenomatous polyposis, Weren et al. (2015) identified a homozygous truncating mutation in the NTHL1 gene (Q90X; 602656.0001), which is a base excision repair gene. The mutation was found by whole-exome sequencing of 51 patients from 48 families with a predisposition to colonic adenomatous polyposis, and was confirmed by Sanger sequencing to segregate with the disorder in the 3 families. A heterozygous Q90X mutation was found at a frequency of 0.0036 among 2,329 controls and of 0.0015 in the ExAC database; the highest prevalence of the mutation was found in individuals of European descent. Analysis of patient cells showed that the mutation resulted in nonsense-mediated mRNA decay, consistent with a loss of function. Genetic analysis of 3 carcinomas and 5 adenomas from different patients homozygous for Q90X showed a nonhypermutated profile enriched for C-to-T transitions, and the carcinomas carried somatic mutations in several genes, including APC (611731), TP53 (191170), KRAS (190070), and PIK3CA (171834). </p><p>In a German woman with FAP3 and multiple additional extracolonic neoplasms, Rivera et al. (2015) identified compound heterozygous mutations in the NTHL1 gene (602656.0001 and 602656.0002). Six different tumors from the proband were found to carry somatic mutations in driver genes, such as FGFR3 (134934). </p>
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Rivera, B., Castellsague, E., Bah, I., and others.
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<strong>Biallelic NTHL1 mutations in a woman with multiple primary tumors. (Letter)</strong>
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New Eng. J. Med. 373: 1985-1986, 2015. Note: Full author list online. Erratum: New Eng. J. Med. 373: e33, 2015.
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[PubMed: 26559593]
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[Full Text: https://doi.org/10.1056/NEJMc1506878]
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Weren, R. D. A., Ligtenberg, M. J. L., Kets, C. M., de Voer, R. M., Verwiel, E. T. P., Spruijt, L., van Zelst-Stams, W. A. G., Jongmans, M. C., Gilissen, C., Hehir-Kwa, J. Y., Hoischen, A., Shendure, J., and 9 others.
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<strong>A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.</strong>
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Nature Genet. 47: 668-671, 2015.
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[PubMed: 25938944]
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[Full Text: https://doi.org/10.1038/ng.3287]
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Cassandra L. Kniffin - updated : 11/19/2015
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Cassandra L. Kniffin : 6/9/2015
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carol : 08/12/2016<br>carol : 08/11/2016<br>carol : 11/20/2015<br>ckniffin : 11/19/2015<br>carol : 6/10/2015<br>mcolton : 6/9/2015<br>ckniffin : 6/9/2015
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