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<title>
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Entry
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- #613348 - PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
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- OMIM
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<span class="h4">#613348</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/613348"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=(PANCREATIC CANCER) OR (PALB2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3708&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9070" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613348[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1333" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 1333<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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613348
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
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</span>
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</h3>
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
PNCA3
|
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</span>
|
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</h4>
|
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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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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/16/278?start=-3&limit=10&highlight=278">
|
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16p12.2
|
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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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{Pancreatic cancer, susceptibility to, 3}
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/613348"> 613348 </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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PALB2
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/610355"> 610355 </a>
|
|
</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/613348" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<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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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/613348" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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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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<strong> INHERITANCE </strong>
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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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- Pancreatic adenocarcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/700423003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">700423003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0281361&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0281361</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006725</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006725</a>]</span><br />
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- Pancreatic adenocarcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/700423003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">700423003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0281361&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0281361</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006725</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006725</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Susceptibility conferred by mutation in the partner and localizer of BRCA2 gene (PALB2, <a href="/entry/610355#0007">610355.0007</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because heterozygous mutation in the PALB2 gene (<a href="/entry/610355">610355</a>) on chromosome 16p12 confers susceptibility to pancreatic cancer.</p>
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<strong>Description</strong>
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<p>Individuals with mutation in the PALB2 gene have an increased risk of developing pancreatic cancer. In addition, PALB2 variants increase susceptibility to several other cancers, e.g., familial breast-ovarian cancer (BROVCA5; <a href="/entry/620422">620422</a>) (<a href="#1" class="mim-tip-reference" title="Jones, S., Hruban, R. H., Kamiyama, M., Borges, M., Zhang, X., Parsons, D. W., Lin, J. C.-H., Palmisano, E., Brune, K., Jaffee, E. M., Iacobuzio-Donahue, C. A., Maitra, A., Parmigiani, G., Kern, S. E., Velculescu, V. E., Kinzler, K. W., Vogelstein, B., Eshleman, J. R., Goggins, M., Klein, A. P. <strong>Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.</strong> Science 324: 217 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19264984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19264984</a>] [<a href="https://doi.org/10.1126/science.1171202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19264984">Jones et al., 2009</a>; <a href="#3" class="mim-tip-reference" title="Yang, X., Leslie, G., Doroszuk, A., Schneider, S., Allen, J., Decker, B., Dunning, A. M., Redman, J., Scarth, J., Plaskocinska, I., Luccarini, C., Shah, M., and 107 others. <strong>Cancer risks associated with germline PALB2 pathogenic variants: an international study of 524 families.</strong> J. Clin. Oncol. 38: 674-685, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31841383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31841383</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31841383[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/10.1200/JCO.19.01907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31841383">Yang et al., 2020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19264984+31841383" 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 background, phenotypic description, and a discussion of genetic heterogeneity of pancreatic carcinoma, see <a href="/entry/260350">260350</a>.</p>
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<p>To explore the utility of personal genome sequencing, <a href="#1" class="mim-tip-reference" title="Jones, S., Hruban, R. H., Kamiyama, M., Borges, M., Zhang, X., Parsons, D. W., Lin, J. C.-H., Palmisano, E., Brune, K., Jaffee, E. M., Iacobuzio-Donahue, C. A., Maitra, A., Parmigiani, G., Kern, S. E., Velculescu, V. E., Kinzler, K. W., Vogelstein, B., Eshleman, J. R., Goggins, M., Klein, A. P. <strong>Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.</strong> Science 324: 217 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19264984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19264984</a>] [<a href="https://doi.org/10.1126/science.1171202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19264984">Jones et al. (2009)</a> screened 20,661 coding genes for germline mutations in a patient with pancreatic cancer whose tumor DNA had previously been sequenced. They detected 15,461 germline variants. Three genes, including PALB2, carried variants in both germline and tumor DNA. PALB2 was considered the best candidate for a pancreatic cancer susceptibility gene because of the rarity of terminating PALB2 mutations in healthy individuals and because PALB2 had previously been implicated in breast cancer and Fanconi anemia. This patient harbored a germline deletion of 4 basepairs that resulted in a frameshift (<a href="/entry/610355#0007">610355.0007</a>). <a href="#1" class="mim-tip-reference" title="Jones, S., Hruban, R. H., Kamiyama, M., Borges, M., Zhang, X., Parsons, D. W., Lin, J. C.-H., Palmisano, E., Brune, K., Jaffee, E. M., Iacobuzio-Donahue, C. A., Maitra, A., Parmigiani, G., Kern, S. E., Velculescu, V. E., Kinzler, K. W., Vogelstein, B., Eshleman, J. R., Goggins, M., Klein, A. P. <strong>Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.</strong> Science 324: 217 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19264984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19264984</a>] [<a href="https://doi.org/10.1126/science.1171202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19264984">Jones et al. (2009)</a> also identified truncating mutations in 3 of 96 patients with familial pancreatic cancer (e.g., <a href="/entry/610355#0008">610355.0008</a>). The average age of onset of pancreatic cancer in these families was 66.7 years, similar to the mean age of onset of 65.3 years in the families without PALB2 mutations. Truncating mutations in PALB2 are rare in individuals without cancer; none were reported among 1,084 normal participants in a previous study that used a cohort of similar ethnicity (primarily Caucasian) (<a href="#2" class="mim-tip-reference" title="Rahman, N., Seal, S., Thompson, D., Kelly, P., Renwick, A., Elliott, A., Reid, S., Spanova, K., Barfoot, R., Chagtai, T., Jayatilake, H., McGuffog, L., Hanks, S., Evans, D. G., Eccles, D., The Breast Cancer Susceptibility Collaboration (UK), Easton, D. F., Stratton, M. R. <strong>PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.</strong> Nature Genet. 39: 165-167, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17200668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17200668</a>] [<a href="https://doi.org/10.1038/ng1959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17200668">Rahman et al., 2007</a>). Although some families that <a href="#1" class="mim-tip-reference" title="Jones, S., Hruban, R. H., Kamiyama, M., Borges, M., Zhang, X., Parsons, D. W., Lin, J. C.-H., Palmisano, E., Brune, K., Jaffee, E. M., Iacobuzio-Donahue, C. A., Maitra, A., Parmigiani, G., Kern, S. E., Velculescu, V. E., Kinzler, K. W., Vogelstein, B., Eshleman, J. R., Goggins, M., Klein, A. P. <strong>Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.</strong> Science 324: 217 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19264984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19264984</a>] [<a href="https://doi.org/10.1126/science.1171202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19264984">Jones et al. (2009)</a> identified with a PALB2 stop mutation had a history of both breast and pancreatic cancer, breast cancer was not observed in all families. <a href="#1" class="mim-tip-reference" title="Jones, S., Hruban, R. H., Kamiyama, M., Borges, M., Zhang, X., Parsons, D. W., Lin, J. C.-H., Palmisano, E., Brune, K., Jaffee, E. M., Iacobuzio-Donahue, C. A., Maitra, A., Parmigiani, G., Kern, S. E., Velculescu, V. E., Kinzler, K. W., Vogelstein, B., Eshleman, J. R., Goggins, M., Klein, A. P. <strong>Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.</strong> Science 324: 217 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19264984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19264984</a>] [<a href="https://doi.org/10.1126/science.1171202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19264984">Jones et al. (2009)</a> concluded that PALB2 appears to be the second most commonly mutated gene for hereditary pancreatic cancer. The most commonly mutated gene is BRCA2 (<a href="/entry/600185">600185</a>), whose protein product is a binding partner for the PALB2 protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17200668+19264984" 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="Zhen, D. B., Rabe, K. G., Gallinger, S., Syngal, S., Schwartz, A. G., Goggins, M. G., Hruban, R. H., Cote, M. L., McWilliams, R. R., Roberts, N. J., Cannon-Albright, L. A., Li, D., Moyes, K., Wenstrup, R. J., Hartman, A.-R., Seminara, D., Klein, A. P., Petersen, G. M. <strong>BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.</strong> Genet. Med. 17: 569-577, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25356972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25356972</a>] [<a href="https://doi.org/10.1038/gim.2014.153" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25356972">Zhen et al. (2015)</a> tested germline DNA from 727 unrelated probands with pancreatic cancer and a positive family history for mutations in BRCA1 (<a href="/entry/113705">113705</a>) and BRCA2 (including deletions and rearrangements), PALB2, and CDKN2A (<a href="/entry/600160">600160</a>). Among these probands, 521 met criteria for familial pancreatic cancer (FPC; at least 2 affected first-degree relatives). The prevalence of deleterious mutations, excluding variants of unknown significance, among FPC probands was BRCA1, 1.2%; BRCA2, 3.7%; PALB2, 0.6%; and CDKN2A, 2.5%. Four novel deleterious mutations were detected. FPC probands carried more mutations in the 4 genes (8.0%) than nonfamilial pancreatic cancer probands (3.5%; OR = 2.40, 95% CI 1.06-5.44, p = 0.03). The probability of testing positive for deleterious mutations in any of the 4 genes ranged up to 10.4%, depending on family history of cancers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25356972" 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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Jones, S., Hruban, R. H., Kamiyama, M., Borges, M., Zhang, X., Parsons, D. W., Lin, J. C.-H., Palmisano, E., Brune, K., Jaffee, E. M., Iacobuzio-Donahue, C. A., Maitra, A., Parmigiani, G., Kern, S. E., Velculescu, V. E., Kinzler, K. W., Vogelstein, B., Eshleman, J. R., Goggins, M., Klein, A. P.
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<strong>Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.</strong>
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Science 324: 217 only, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19264984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19264984</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19264984" 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/10.1126/science.1171202" target="_blank">Full Text</a>]
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Rahman, N., Seal, S., Thompson, D., Kelly, P., Renwick, A., Elliott, A., Reid, S., Spanova, K., Barfoot, R., Chagtai, T., Jayatilake, H., McGuffog, L., Hanks, S., Evans, D. G., Eccles, D., The Breast Cancer Susceptibility Collaboration (UK), Easton, D. F., Stratton, M. R.
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<strong>PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.</strong>
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Nature Genet. 39: 165-167, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17200668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17200668</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17200668" 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/ng1959" target="_blank">Full Text</a>]
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Yang, X., Leslie, G., Doroszuk, A., Schneider, S., Allen, J., Decker, B., Dunning, A. M., Redman, J., Scarth, J., Plaskocinska, I., Luccarini, C., Shah, M., and 107 others.
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<strong>Cancer risks associated with germline PALB2 pathogenic variants: an international study of 524 families.</strong>
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J. Clin. Oncol. 38: 674-685, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31841383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31841383</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31841383[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=31841383" 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/10.1200/JCO.19.01907" target="_blank">Full Text</a>]
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Zhen, D. B., Rabe, K. G., Gallinger, S., Syngal, S., Schwartz, A. G., Goggins, M. G., Hruban, R. H., Cote, M. L., McWilliams, R. R., Roberts, N. J., Cannon-Albright, L. A., Li, D., Moyes, K., Wenstrup, R. J., Hartman, A.-R., Seminara, D., Klein, A. P., Petersen, G. M.
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<strong>BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.</strong>
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Genet. Med. 17: 569-577, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25356972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25356972</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25356972" 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/gim.2014.153" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 10/19/2015
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Anne M. Stumpf : 4/8/2010
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carol : 07/21/2023
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alopez : 10/19/2015<br>alopez : 4/8/2010
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PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
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PNCA3
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<strong>ORPHA:</strong> 1333;
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16p12.2
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{Pancreatic cancer, susceptibility to, 3}
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Autosomal dominant
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3
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PALB2
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610355
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<p>A number sign (#) is used with this entry because heterozygous mutation in the PALB2 gene (610355) on chromosome 16p12 confers susceptibility to pancreatic cancer.</p>
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<p>Individuals with mutation in the PALB2 gene have an increased risk of developing pancreatic cancer. In addition, PALB2 variants increase susceptibility to several other cancers, e.g., familial breast-ovarian cancer (BROVCA5; 620422) (Jones et al., 2009; Yang et al., 2020). </p><p>For background, phenotypic description, and a discussion of genetic heterogeneity of pancreatic carcinoma, see 260350.</p>
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<p>To explore the utility of personal genome sequencing, Jones et al. (2009) screened 20,661 coding genes for germline mutations in a patient with pancreatic cancer whose tumor DNA had previously been sequenced. They detected 15,461 germline variants. Three genes, including PALB2, carried variants in both germline and tumor DNA. PALB2 was considered the best candidate for a pancreatic cancer susceptibility gene because of the rarity of terminating PALB2 mutations in healthy individuals and because PALB2 had previously been implicated in breast cancer and Fanconi anemia. This patient harbored a germline deletion of 4 basepairs that resulted in a frameshift (610355.0007). Jones et al. (2009) also identified truncating mutations in 3 of 96 patients with familial pancreatic cancer (e.g., 610355.0008). The average age of onset of pancreatic cancer in these families was 66.7 years, similar to the mean age of onset of 65.3 years in the families without PALB2 mutations. Truncating mutations in PALB2 are rare in individuals without cancer; none were reported among 1,084 normal participants in a previous study that used a cohort of similar ethnicity (primarily Caucasian) (Rahman et al., 2007). Although some families that Jones et al. (2009) identified with a PALB2 stop mutation had a history of both breast and pancreatic cancer, breast cancer was not observed in all families. Jones et al. (2009) concluded that PALB2 appears to be the second most commonly mutated gene for hereditary pancreatic cancer. The most commonly mutated gene is BRCA2 (600185), whose protein product is a binding partner for the PALB2 protein. </p><p>Zhen et al. (2015) tested germline DNA from 727 unrelated probands with pancreatic cancer and a positive family history for mutations in BRCA1 (113705) and BRCA2 (including deletions and rearrangements), PALB2, and CDKN2A (600160). Among these probands, 521 met criteria for familial pancreatic cancer (FPC; at least 2 affected first-degree relatives). The prevalence of deleterious mutations, excluding variants of unknown significance, among FPC probands was BRCA1, 1.2%; BRCA2, 3.7%; PALB2, 0.6%; and CDKN2A, 2.5%. Four novel deleterious mutations were detected. FPC probands carried more mutations in the 4 genes (8.0%) than nonfamilial pancreatic cancer probands (3.5%; OR = 2.40, 95% CI 1.06-5.44, p = 0.03). The probability of testing positive for deleterious mutations in any of the 4 genes ranged up to 10.4%, depending on family history of cancers. </p>
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<strong>REFERENCES</strong>
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Jones, S., Hruban, R. H., Kamiyama, M., Borges, M., Zhang, X., Parsons, D. W., Lin, J. C.-H., Palmisano, E., Brune, K., Jaffee, E. M., Iacobuzio-Donahue, C. A., Maitra, A., Parmigiani, G., Kern, S. E., Velculescu, V. E., Kinzler, K. W., Vogelstein, B., Eshleman, J. R., Goggins, M., Klein, A. P.
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<strong>Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.</strong>
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Science 324: 217 only, 2009.
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[PubMed: 19264984]
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[Full Text: https://doi.org/10.1126/science.1171202]
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Rahman, N., Seal, S., Thompson, D., Kelly, P., Renwick, A., Elliott, A., Reid, S., Spanova, K., Barfoot, R., Chagtai, T., Jayatilake, H., McGuffog, L., Hanks, S., Evans, D. G., Eccles, D., The Breast Cancer Susceptibility Collaboration (UK), Easton, D. F., Stratton, M. R.
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<strong>PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.</strong>
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Nature Genet. 39: 165-167, 2007.
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[PubMed: 17200668]
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[Full Text: https://doi.org/10.1038/ng1959]
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Yang, X., Leslie, G., Doroszuk, A., Schneider, S., Allen, J., Decker, B., Dunning, A. M., Redman, J., Scarth, J., Plaskocinska, I., Luccarini, C., Shah, M., and 107 others.
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<strong>Cancer risks associated with germline PALB2 pathogenic variants: an international study of 524 families.</strong>
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J. Clin. Oncol. 38: 674-685, 2020.
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[PubMed: 31841383]
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[Full Text: https://doi.org/10.1200/JCO.19.01907]
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Zhen, D. B., Rabe, K. G., Gallinger, S., Syngal, S., Schwartz, A. G., Goggins, M. G., Hruban, R. H., Cote, M. L., McWilliams, R. R., Roberts, N. J., Cannon-Albright, L. A., Li, D., Moyes, K., Wenstrup, R. J., Hartman, A.-R., Seminara, D., Klein, A. P., Petersen, G. M.
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<strong>BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.</strong>
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Genet. Med. 17: 569-577, 2015.
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[PubMed: 25356972]
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[Full Text: https://doi.org/10.1038/gim.2014.153]
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Ada Hamosh - updated : 10/19/2015
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Anne M. Stumpf : 4/8/2010
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carol : 07/21/2023<br>alopez : 10/19/2015<br>alopez : 4/8/2010
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