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<title>
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Entry
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- #181030 - SALIVARY GLAND ADENOMA, PLEOMORPHIC
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- OMIM
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<span class="h4">#181030</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/181030"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></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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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(SALIVARY GLAND ADENOMA, PLEOMORPHIC) OR (PLAG1)" 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=20349&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/9260" 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=181030[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=276148" 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 class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:452" 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/181030" 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>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 447888006<br />
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<strong>ORPHA:</strong> 276148<br />
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<strong>DO:</strong> 452<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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181030
|
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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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SALIVARY GLAND ADENOMA, PLEOMORPHIC
|
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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>
|
|
<span class="mim-font">
|
|
SGPA<br />
|
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PSA
|
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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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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<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>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
|
Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
|
</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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<a href="/geneMap/8/280?start=-3&limit=10&highlight=280">
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8q12.1
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Adenomas, salivary gland pleomorphic, somatic
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<a href="/entry/181030"> 181030 </a>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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PLAG1
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<a href="/entry/603026"> 603026 </a>
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- Somatic mutation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124975008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124975008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866227</a>, <a href="https://bioportal.bioontology.org/search?q=C0544886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span><br />
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- Pleomorphic benign salivary gland adenoma (PSA) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231360&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231360</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Chromosome 3p or 8q rearrangements (in many patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231359&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231359</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by somatic translocation or genomic rearrangement involving PLAG1 (<a href="/entry/603026">603026</a>) on 8q12<br />
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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 of evidence that the disorder can be caused by t(3;8)(p21;q12) translocations that result in a fusion between pleomorphic adenoma gene-1 (PLAG1; <a href="/entry/603026">603026</a>) and the beta-1-catenin gene (CTNNB1; <a href="/entry/116806">116806</a>) and the TCEA1 gene (<a href="/entry/601425">601425</a>).</p>
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<strong>Molecular Genetics</strong>
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<p>Pleomorphic salivary gland adenoma (PSA) is the most common tumor of the human parotid gland. It is a benign, slow-growing tumor, but local recurrences are observed. <a href="#5" class="mim-tip-reference" title="Mark, J., Dahlenfors, R. <strong>Cytogenetical observations in 100 human benign pleomorphic adenomas: specificity of the chromosomal aberrations and their relationship to sites of localized oncogenes.</strong> Anticancer Res. 6: 299-308, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3707067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3707067</a>]" pmid="3707067">Mark and Dahlenfors (1986)</a> and <a href="#4" class="mim-tip-reference" title="Bullerdiek, J., Raabe, G., Bartnitzke, S., Boschen, C., Schloot, W. <strong>Structural rearrangements of chromosome #8 involving 8q12--a primary event in pleomorphic adenomas of the parotid gland.</strong> Genetica 72: 85-92, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3505884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3505884</a>] [<a href="https://doi.org/10.1007/BF00123166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3505884">Bullerdiek et al. (1987)</a> found clonal chromosome abnormalities, with a preponderance of aberrations involving 8q12. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3707067+3505884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bullerdiek, J., Bartnitzke, S., Weinberg, M., Chilla, R., Haubrich, J., Schloot, W. <strong>Rearrangements of chromosome region 12q13-q15 in pleomorphic adenomas of the human salivary gland (PSA).</strong> Cytogenet. Cell Genet. 45: 187-190, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3691185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3691185</a>] [<a href="https://doi.org/10.1159/000132452" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3691185">Bullerdiek et al. (1987)</a> found another subgroup of tumors characterized by changes affecting 12q13-q15. This subgroup was found in 9 of 40 PSAs and in 9 cases reported in the literature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3691185" 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="#6" class="mim-tip-reference" title="Stenman, G., Sandros, J., Mark, J., Nordkvist, A. <strong>High p21(RAS) expression levels correlate with chromosome 8 rearrangements in benign human mixed salivary gland tumors.</strong> Genes Chromosomes Cancer 1: 59-66, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2562114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2562114</a>] [<a href="https://doi.org/10.1002/gcc.2870010110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2562114">Stenman et al. (1989)</a> used monoclonal antibodies to study the expression of p21(RAS) in benign and malignant salivary gland tumors, as well as in normal salivary gland tissue. They found that 28 of 29 benign pleomorphic adenomas overexpressed p21(RAS), whereas only 12 of 18 malignant salivary gland tumors expressed the p21 protein. The expression levels were also substantially higher in the adenomas than in the malignant tumors. They showed a correlation between levels of p21 expression and the karyotype of the pleomorphic adenomas indicating a relationship to chromosome 8 rearrangement. <a href="#6" class="mim-tip-reference" title="Stenman, G., Sandros, J., Mark, J., Nordkvist, A. <strong>High p21(RAS) expression levels correlate with chromosome 8 rearrangements in benign human mixed salivary gland tumors.</strong> Genes Chromosomes Cancer 1: 59-66, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2562114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2562114</a>] [<a href="https://doi.org/10.1002/gcc.2870010110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2562114">Stenman et al. (1989)</a> hypothesized that a gene located at 8q12 is involved in the regulation of RAS gene expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2562114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Astrom, A.-K., Voz, M. L., Kas, K., Roijer, E., Wedell, B., Mandahl, N., Van de Ven, W., Mark, J., Stenman, G. <strong>Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene.</strong> Cancer Res. 59: 918-923, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10029085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10029085</a>]" pmid="10029085">Astrom et al. (1999)</a> demonstrated that PLAG1 activation in salivary gland tumors can occur without microscopically apparent 8q12 abnormalities, i.e., a grossly normal karyotype, and that the translocation elongation factor SII (TCEA1; <a href="/entry/601425">601425</a>) is a fusion partner of the PLAG1 gene in some cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10029085" 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="Asp, J., Persson, F., Kost-Alimova, M., Stenman, G. <strong>CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.</strong> Genes Chromosomes Cancer 45: 820-828, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16736500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16736500</a>] [<a href="https://doi.org/10.1002/gcc.20346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16736500">Asp et al. (2006)</a> carried out RT-PCR analysis of 27 cytogenetically characterized pleomorphic salivary gland adenomas containing chromosome 8q12 translocations that lacked PLAG1/CTNNB1 (<a href="/entry/116806">116806</a>) gene fusions. They detected chimeric transcripts of CHCHD7 (<a href="/entry/611238">611238</a>) exon 1 fused to either exons 3 and 4 of PLAG1 or to PLAG1 exons 2 to 4 in 3 tumors: a tumor containing a t(8:15)(q12;q14) translocation, a second containing at t(6;8)(p22-21.3;q13) translocation, and a third tumor with a normal karyotype. Using immunohistochemistry of tumor tissues containing CHCHD7/PLAG1 fusions, <a href="#1" class="mim-tip-reference" title="Asp, J., Persson, F., Kost-Alimova, M., Stenman, G. <strong>CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.</strong> Genes Chromosomes Cancer 45: 820-828, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16736500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16736500</a>] [<a href="https://doi.org/10.1002/gcc.20346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16736500">Asp et al. (2006)</a> detected PLAG1 protein and suggested that the CHCHD7/PLAG1 gene fusion upregulates PLAG1 protein expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16736500" 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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Asp, J., Persson, F., Kost-Alimova, M., Stenman, G.
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<strong>CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.</strong>
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Genes Chromosomes Cancer 45: 820-828, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16736500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16736500</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16736500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/gcc.20346" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Astrom1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Astrom, A.-K., Voz, M. L., Kas, K., Roijer, E., Wedell, B., Mandahl, N., Van de Ven, W., Mark, J., Stenman, G.
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<strong>Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene.</strong>
|
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Cancer Res. 59: 918-923, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10029085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10029085</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10029085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Bullerdiek1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Bullerdiek, J., Bartnitzke, S., Weinberg, M., Chilla, R., Haubrich, J., Schloot, W.
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<strong>Rearrangements of chromosome region 12q13-q15 in pleomorphic adenomas of the human salivary gland (PSA).</strong>
|
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Cytogenet. Cell Genet. 45: 187-190, 1987.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3691185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3691185</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3691185" 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/10.1159/000132452" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Bullerdiek1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Bullerdiek, J., Raabe, G., Bartnitzke, S., Boschen, C., Schloot, W.
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<strong>Structural rearrangements of chromosome #8 involving 8q12--a primary event in pleomorphic adenomas of the parotid gland.</strong>
|
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Genetica 72: 85-92, 1987.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3505884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3505884</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3505884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00123166" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Mark1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mark, J., Dahlenfors, R.
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<strong>Cytogenetical observations in 100 human benign pleomorphic adenomas: specificity of the chromosomal aberrations and their relationship to sites of localized oncogenes.</strong>
|
|
Anticancer Res. 6: 299-308, 1986.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3707067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3707067</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3707067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Stenman1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stenman, G., Sandros, J., Mark, J., Nordkvist, A.
|
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<strong>High p21(RAS) expression levels correlate with chromosome 8 rearrangements in benign human mixed salivary gland tumors.</strong>
|
|
Genes Chromosomes Cancer 1: 59-66, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2562114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2562114</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2562114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/gcc.2870010110" target="_blank">Full Text</a>]
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</ol>
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<div>
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<br />
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 4/16/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 3/26/1988
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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="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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wwang : 02/04/2010
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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terry : 4/16/1999<br>psherman : 9/14/1998<br>psherman : 9/14/1998<br>mimadm : 3/25/1995<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>supermim : 2/17/1990<br>carol : 12/11/1989<br>carol : 12/7/1989
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</span>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 181030
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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SALIVARY GLAND ADENOMA, PLEOMORPHIC
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</h3>
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</div>
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<div>
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<div>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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SGPA<br />
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PSA
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<div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 447888006;
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<strong>ORPHA:</strong> 276148;
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<strong>DO:</strong> 452;
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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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 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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</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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8q12.1
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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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Adenomas, salivary gland pleomorphic, somatic
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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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181030
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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<td>
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<span class="mim-font">
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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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PLAG1
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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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603026
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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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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that the disorder can be caused by t(3;8)(p21;q12) translocations that result in a fusion between pleomorphic adenoma gene-1 (PLAG1; 603026) and the beta-1-catenin gene (CTNNB1; 116806) and the TCEA1 gene (601425).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Pleomorphic salivary gland adenoma (PSA) is the most common tumor of the human parotid gland. It is a benign, slow-growing tumor, but local recurrences are observed. Mark and Dahlenfors (1986) and Bullerdiek et al. (1987) found clonal chromosome abnormalities, with a preponderance of aberrations involving 8q12. </p><p>Bullerdiek et al. (1987) found another subgroup of tumors characterized by changes affecting 12q13-q15. This subgroup was found in 9 of 40 PSAs and in 9 cases reported in the literature. </p><p>Stenman et al. (1989) used monoclonal antibodies to study the expression of p21(RAS) in benign and malignant salivary gland tumors, as well as in normal salivary gland tissue. They found that 28 of 29 benign pleomorphic adenomas overexpressed p21(RAS), whereas only 12 of 18 malignant salivary gland tumors expressed the p21 protein. The expression levels were also substantially higher in the adenomas than in the malignant tumors. They showed a correlation between levels of p21 expression and the karyotype of the pleomorphic adenomas indicating a relationship to chromosome 8 rearrangement. Stenman et al. (1989) hypothesized that a gene located at 8q12 is involved in the regulation of RAS gene expression. </p><p>Astrom et al. (1999) demonstrated that PLAG1 activation in salivary gland tumors can occur without microscopically apparent 8q12 abnormalities, i.e., a grossly normal karyotype, and that the translocation elongation factor SII (TCEA1; 601425) is a fusion partner of the PLAG1 gene in some cases. </p><p>Asp et al. (2006) carried out RT-PCR analysis of 27 cytogenetically characterized pleomorphic salivary gland adenomas containing chromosome 8q12 translocations that lacked PLAG1/CTNNB1 (116806) gene fusions. They detected chimeric transcripts of CHCHD7 (611238) exon 1 fused to either exons 3 and 4 of PLAG1 or to PLAG1 exons 2 to 4 in 3 tumors: a tumor containing a t(8:15)(q12;q14) translocation, a second containing at t(6;8)(p22-21.3;q13) translocation, and a third tumor with a normal karyotype. Using immunohistochemistry of tumor tissues containing CHCHD7/PLAG1 fusions, Asp et al. (2006) detected PLAG1 protein and suggested that the CHCHD7/PLAG1 gene fusion upregulates PLAG1 protein expression. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Asp, J., Persson, F., Kost-Alimova, M., Stenman, G.
|
|
<strong>CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.</strong>
|
|
Genes Chromosomes Cancer 45: 820-828, 2006.
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|
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|
|
[PubMed: 16736500]
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[Full Text: https://doi.org/10.1002/gcc.20346]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Astrom, A.-K., Voz, M. L., Kas, K., Roijer, E., Wedell, B., Mandahl, N., Van de Ven, W., Mark, J., Stenman, G.
|
|
<strong>Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene.</strong>
|
|
Cancer Res. 59: 918-923, 1999.
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|
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[PubMed: 10029085]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Bullerdiek, J., Bartnitzke, S., Weinberg, M., Chilla, R., Haubrich, J., Schloot, W.
|
|
<strong>Rearrangements of chromosome region 12q13-q15 in pleomorphic adenomas of the human salivary gland (PSA).</strong>
|
|
Cytogenet. Cell Genet. 45: 187-190, 1987.
|
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[PubMed: 3691185]
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[Full Text: https://doi.org/10.1159/000132452]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Bullerdiek, J., Raabe, G., Bartnitzke, S., Boschen, C., Schloot, W.
|
|
<strong>Structural rearrangements of chromosome #8 involving 8q12--a primary event in pleomorphic adenomas of the parotid gland.</strong>
|
|
Genetica 72: 85-92, 1987.
|
|
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|
|
[PubMed: 3505884]
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[Full Text: https://doi.org/10.1007/BF00123166]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Mark, J., Dahlenfors, R.
|
|
<strong>Cytogenetical observations in 100 human benign pleomorphic adenomas: specificity of the chromosomal aberrations and their relationship to sites of localized oncogenes.</strong>
|
|
Anticancer Res. 6: 299-308, 1986.
|
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|
|
[PubMed: 3707067]
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|
|
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</p>
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</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Stenman, G., Sandros, J., Mark, J., Nordkvist, A.
|
|
<strong>High p21(RAS) expression levels correlate with chromosome 8 rearrangements in benign human mixed salivary gland tumors.</strong>
|
|
Genes Chromosomes Cancer 1: 59-66, 1989.
|
|
|
|
|
|
[PubMed: 2562114]
|
|
|
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|
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[Full Text: https://doi.org/10.1002/gcc.2870010110]
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</p>
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</li>
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Contributors:
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Victor A. McKusick - updated : 4/16/1999
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Creation Date:
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Victor A. McKusick : 3/26/1988
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wwang : 02/04/2010<br>terry : 4/16/1999<br>psherman : 9/14/1998<br>psherman : 9/14/1998<br>mimadm : 3/25/1995<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>supermim : 2/17/1990<br>carol : 12/11/1989<br>carol : 12/7/1989
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