2215 lines
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Entry
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- #603956 - CERVICAL CANCER
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- OMIM
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<p>
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<span class="h4">#603956</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="#text"><strong>Text</strong></a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(CERVICAL CANCER) OR (FGFR3)" 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.diseaseinfosearch.org/x/7949" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/fgfr3" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603956[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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<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><a href="https://www.alliancegenome.org/disease/DOID:4362" 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/603956" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:4362" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div>
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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> 363354003<br />
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<strong>DO:</strong> 4362<br />
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">ICD+</a>
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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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603956
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</span>
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CERVICAL CANCER
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</h3>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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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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<tbody>
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<td>
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<span class="mim-font">
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<a href="/geneMap/4/34?start=-3&limit=10&highlight=34">
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4p16.3
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</a>
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</td>
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<td>
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<span class="mim-font">
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Cervical cancer, somatic
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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/603956"> 603956 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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FGFR3
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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/134934"> 134934 </a>
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</span>
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</td>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/603956" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/603956" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that various genes are involved in the causation of cervical cancer.</p>
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</span>
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<p>In the vast majority of cases, invasive carcinoma of the uterine cervix is thought to arise from preinvasive cervical intraepithelial neoplasias, designated CIN I-CIN III, which represent a pathologic continuum from mild to severe epithelial dysplasia. Only some cases of the more dysplastic lesions progress further to invasive carcinoma. Whereas most of the precursor lesions are readily curable, the prognosis for invasive carcinoma is generally poor, making the dissection of the molecular events that cause invasion considerably important. The observations are consistent with models describing a multistep genetic pathway for human tumorigenesis as proposed by <a href="#4" class="mim-tip-reference" title="Fearon, E. R., Vogelstein, B. <strong>A genetic model for colorectal tumorigenesis.</strong> Cell 61: 759-767, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2188735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2188735</a>] [<a href="https://doi.org/10.1016/0092-8674(90)90186-i" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2188735">Fearon and Vogelstein (1990)</a> for colorectal cancer. Cervical cancer is strongly associated with infection by oncogenic types of human papillomavirus (HPV; see <a href="/entry/167959">167959</a> and <a href="/entry/167960">167960</a>), but only a small fraction of those infected develop cancer, indicating that other factors contribute to the progression to cervical cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2188735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Magnusson, P. K. E., Sparen, P., Gyllensten, U. B. <strong>Genetic link to cervical tumours. (Letter)</strong> Nature 400: 29-30, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10403244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10403244</a>] [<a href="https://doi.org/10.1038/21801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10403244">Magnusson et al. (1999)</a> compared the incidence of cervical cancer in relatives of cases of cervical cancer and controls, and found a significant familial clustering among biologic, but not adoptive, relatives. They used the Swedish national registers to identify relatives of cases with cervical cancer (126,893 relatives of 71,533 cases) and randomly selected age-matched controls. The relative risk for biologic mothers to cases was 1.83, whereas for adopted mothers the relative risk was not significantly different from 1. The relative risk for biologic full sisters to cases was 1.93, whereas that for nonbiologic sisters to cases was 1. Examining second-degree relatives, <a href="#7" class="mim-tip-reference" title="Magnusson, P. K. E., Sparen, P., Gyllensten, U. B. <strong>Genetic link to cervical tumours. (Letter)</strong> Nature 400: 29-30, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10403244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10403244</a>] [<a href="https://doi.org/10.1038/21801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10403244">Magnusson et al. (1999)</a> found that half sisters to cases had a relative risk of 1.45, which is close to that expected if the familial aggregation seen for first-degree relatives is caused mainly by genetic factors. Vertical transmission of HPV does not explain the difference in risk for half sisters since the relative risk for half sisters to cases having a father in common or a mother in common was not different. <a href="#7" class="mim-tip-reference" title="Magnusson, P. K. E., Sparen, P., Gyllensten, U. B. <strong>Genetic link to cervical tumours. (Letter)</strong> Nature 400: 29-30, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10403244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10403244</a>] [<a href="https://doi.org/10.1038/21801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10403244">Magnusson et al. (1999)</a> concluded that the familial risk for cervical tumors is of the same magnitude as that seen for other forms of cancer, such as prostate cancer (<a href="/entry/176807">176807</a>), for which genetic contribution has long been recognized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10403244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Pursuing the functional studies showing that human chromosome 11 contains a gene or genes capable of suppressing tumorigenicity in cell lines derived from different histopathologic types of cervical carcinoma, <a href="#5" class="mim-tip-reference" title="Hampton, G. M., Penny, L. A., Baergen, R. N., Larson, A., Brewer, C., Liao, S., Busby-Earle, R. M. C., Williams, A. W. R., Steel, C. M., Bird, C. C., Stanbridge, E. J., Evans, G. A. <strong>Loss of heterozygosity in cervical carcinoma: subchromosomal localization of a putative tumor-suppressor gene to chromosome 11q22-q24.</strong> Proc. Nat. Acad. Sci. 91: 6953-6957, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8041728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8041728</a>] [<a href="https://doi.org/10.1073/pnas.91.15.6953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8041728">Hampton et al. (1994)</a> carried out a systematic analysis of chromosome 11 in primary tumors of 32 patients with cervical carcinoma. To identify the likely chromosomal position of the relevant gene or genes, they used 16 highly polymorphic markers to compare matched DNA samples from noninvolved tissue and portions of tumor tissue highly enriched for neoplastic cells. Of the 32 patients examined, 14 (44%) demonstrated clonal genetic alterations resulting in loss of heterozygosity for 1 or more markers. From the fact that 7 of the clonal genetic alterations on chromosome 11 were specific to the long arm and by the overlap between these and other allelic deletions, <a href="#5" class="mim-tip-reference" title="Hampton, G. M., Penny, L. A., Baergen, R. N., Larson, A., Brewer, C., Liao, S., Busby-Earle, R. M. C., Williams, A. W. R., Steel, C. M., Bird, C. C., Stanbridge, E. J., Evans, G. A. <strong>Loss of heterozygosity in cervical carcinoma: subchromosomal localization of a putative tumor-suppressor gene to chromosome 11q22-q24.</strong> Proc. Nat. Acad. Sci. 91: 6953-6957, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8041728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8041728</a>] [<a href="https://doi.org/10.1073/pnas.91.15.6953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8041728">Hampton et al. (1994)</a> concluded that at least 1 suppressor gene relevant to cervical carcinoma maps to 11q22-q24 (see ST3; <a href="/entry/191181">191181</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8041728" 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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<a href="#2" class="mim-tip-reference" title="Cappellen, D., De Oliveira, C., Ricol, D., Gil Diez de Medina, S., Bourdin, J., Sastre-Garau, X., Chopin, D., Thiery, J. P., Radvanyi, F. <strong>Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. (Letter)</strong> Nature Genet. 23: 18-20, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471491</a>] [<a href="https://doi.org/10.1038/12615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471491">Cappellen et al. (1999)</a> found constitutively activated FGFR3 (<a href="/entry/134934">134934</a>) in a large proportion of 2 common epithelial cancers, cervical cancer and bladder cancer (<a href="/entry/109800">109800</a>). The most frequent FGFR3 mutation identified in epithelial tumors was ser249 to cys (<a href="/entry/134934#0013">134934.0013</a>), affecting 5 of 9 bladder cancers and 3 of 3 cervical cancers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471491" 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="#9" class="mim-tip-reference" title="Ojesina, A. I., Lichtenstein, L., Freeman, S. S., Pedamallu, C. S., Imaz-Rosshandler, I., Pugh, T. J., Cherniack, A. D., Ambrogio, L., Cibulskis, K., Bertelsen, B., Romero-Cordoba, S., Trevino, V., and 44 others. <strong>Landscape of genomic alterations in cervical carcinomas.</strong> Nature 506: 371-375, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24390348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24390348</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24390348[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature12881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24390348">Ojesina et al. (2014)</a> reported whole-exome sequencing analysis of 115 cervical carcinoma and normal tissue paired samples, transcriptome sequencing of 79 cases, and whole-genome sequencing of 14 tumor-normal pairs. Previously unknown somatic mutations in 79 primary squamous cell carcinomas included recurrent E322K substitutions in the MAPK1 gene (<a href="/entry/176948">176948</a>; 8%), inactivating mutations in the HLA-B gene (<a href="/entry/142830">142830</a>; 9%), and mutations in EP300 (<a href="/entry/602700">602700</a>; 16%), FBXW7 (<a href="/entry/606278">606278</a>; 15%), NFE2L2 (<a href="/entry/600492">600492</a>; 4%), TP53 (<a href="/entry/191170">191170</a>; 5%); and ERBB2 (<a href="/entry/164870">164870</a>; 6%). <a href="#9" class="mim-tip-reference" title="Ojesina, A. I., Lichtenstein, L., Freeman, S. S., Pedamallu, C. S., Imaz-Rosshandler, I., Pugh, T. J., Cherniack, A. D., Ambrogio, L., Cibulskis, K., Bertelsen, B., Romero-Cordoba, S., Trevino, V., and 44 others. <strong>Landscape of genomic alterations in cervical carcinomas.</strong> Nature 506: 371-375, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24390348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24390348</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24390348[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature12881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24390348">Ojesina et al. (2014)</a> also observed somatic ELF3 (<a href="/entry/602191">602191</a>; 13%) and CBFB (<a href="/entry/121360">121360</a>; 8%) mutations in 24 adenocarcinomas. Squamous cell carcinomas have higher frequencies of somatic nucleotide substitutions occurring at cytosines preceded by thymines than adenocarcinomas. Gene expression levels at HPV integration sites were statistically significantly higher in tumors with HPV integration compared with expression of the same genes in tumors without viral integration at the same site. <a href="#9" class="mim-tip-reference" title="Ojesina, A. I., Lichtenstein, L., Freeman, S. S., Pedamallu, C. S., Imaz-Rosshandler, I., Pugh, T. J., Cherniack, A. D., Ambrogio, L., Cibulskis, K., Bertelsen, B., Romero-Cordoba, S., Trevino, V., and 44 others. <strong>Landscape of genomic alterations in cervical carcinomas.</strong> Nature 506: 371-375, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24390348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24390348</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24390348[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature12881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24390348">Ojesina et al. (2014)</a> noted that somatic mutations in PIK3CA (<a href="/entry/171834">171834</a>), PTEN (<a href="/entry/601728">601728</a>), TP53, STK11 (<a href="/entry/602216">602216</a>) and KRAS (<a href="/entry/190070">190070</a>) had been implicated in several studies (<a href="#3" class="mim-tip-reference" title="Crook, T., Wrede, D., Tidy, J. A., Mason, W. P., Evans, D. J., Vousden, K. H. <strong>Clonal p53 mutation in primary cervical cancer: association with human-papillomavirus-negative tumours.</strong> Lancet 339: 1070-1073, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1349102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1349102</a>] [<a href="https://doi.org/10.1016/0140-6736(92)90662-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1349102">Crook et al., 1992</a>; <a href="#8" class="mim-tip-reference" title="McIntyre, J. B., Wu, J. S., Craighead, P. S., Phan, T., Kobel, M., Lees-Miller, S. P., Ghatage, P., Magliocco, A. M., Doll, C. M. <strong>PIK3CA mutational status and overall survival in patients with cervical cancer treated with radical chemoradiotherapy.</strong> Gynec. Oncol. 128: 409-414, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23266353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23266353</a>] [<a href="https://doi.org/10.1016/j.ygyno.2012.12.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23266353">McIntyre et al., 2013</a>; <a href="#6" class="mim-tip-reference" title="Kang, S., Kim, H.-S., Seo, S. S., Park, S.-Y., Sidransky, D., Dong, S. M. <strong>Inverse correlation between RASSF1A hypermethylation, KRAS and BRAF mutations in cervical adenocarcinoma.</strong> Gynec. Oncol. 105: 662-666, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17360030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17360030</a>] [<a href="https://doi.org/10.1016/j.ygyno.2007.01.045" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17360030">Kang et al., 2007</a>; <a href="#10" class="mim-tip-reference" title="Wingo, S. N., Gallardo, T. D., Akbay, E. A., Liang, M.-C., Contreras, C. M., Boren, T., Shimamura, T., Miller, D. S., Sharpless, N. E., Bardeesy, N., Kwiatkowski, D. J., Schorge, J. O., Wong, K.-K., Castrillon, D. H. <strong>Somatic LKB1 mutations promote cervical cancer progression.</strong> PLoS One 4: e5137, 2009. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19340305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19340305</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19340305[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/10.1371/journal.pone.0005137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19340305">Wingo et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23266353+19340305+24390348+1349102+17360030" 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>The <a href="#1" class="mim-tip-reference" title="Cancer Genome Atlas Research Network. <strong>Integrated genomic and molecular characterization of cervical cancer.</strong> Nature 543: 378-384, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28112728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28112728</a>] [<a href="https://doi.org/10.1038/nature21386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28112728">Cancer Genome Atlas Research Network (2017)</a> reported the extensive molecular characterization of 228 primary cervical cancers and observed notable APOBEC (see <a href="/entry/600130">600130</a>) mutagenesis patterns and identified SHKBP1 (<a href="/entry/617322">617322</a>), ERBB3 (<a href="/entry/190151">190151</a>), CASP8 (<a href="/entry/601763">601763</a>), HLA-A (<a href="/entry/142800">142800</a>), and TGFBR2 (<a href="/entry/190182">190182</a>) as novel significantly mutated genes in cervical cancer. The <a href="#1" class="mim-tip-reference" title="Cancer Genome Atlas Research Network. <strong>Integrated genomic and molecular characterization of cervical cancer.</strong> Nature 543: 378-384, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28112728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28112728</a>] [<a href="https://doi.org/10.1038/nature21386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28112728">Cancer Genome Atlas Research Network (2017)</a> also discovered amplifications in immune targets CD274 (also known as PDL1; <a href="/entry/605402">605402</a>) and PDCD1LG2 (also known as PDL2; <a href="/entry/605723">605723</a>), and the BCAR4 (<a href="/entry/613746">613746</a>) long noncoding RNA, which has been associated with response to lapatinib. Integration of human papilloma virus (HPV) was observed in all HPV18-related samples and 76% of HPV16-related samples, and was associated with structural aberrations and increased target gene expression. The <a href="#1" class="mim-tip-reference" title="Cancer Genome Atlas Research Network. <strong>Integrated genomic and molecular characterization of cervical cancer.</strong> Nature 543: 378-384, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28112728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28112728</a>] [<a href="https://doi.org/10.1038/nature21386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28112728">Cancer Genome Atlas Research Network (2017)</a> identified a unique set of endometrial-like cervical cancers, comprised predominantly of HPV-negative tumors with relatively high frequencies of KRAS, ARID1A (<a href="/entry/603024">603024</a>), and PTEN mutations. Integrative clustering of 178 samples identified keratin-low squamous, keratin-high squamous, and adenocarcinoma-rich subgroups. The <a href="#1" class="mim-tip-reference" title="Cancer Genome Atlas Research Network. <strong>Integrated genomic and molecular characterization of cervical cancer.</strong> Nature 543: 378-384, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28112728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28112728</a>] [<a href="https://doi.org/10.1038/nature21386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28112728">Cancer Genome Atlas Research Network (2017)</a> concluded that these molecular analyses revealed potential therapeutic targets for cervical cancers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28112728" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Cancer Genome Atlas Research Network2017" class="mim-anchor"></a>
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Cancer Genome Atlas Research Network.
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<strong>Integrated genomic and molecular characterization of cervical cancer.</strong>
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Nature 543: 378-384, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28112728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28112728</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28112728" 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/nature21386" target="_blank">Full Text</a>]
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Cappellen, D., De Oliveira, C., Ricol, D., Gil Diez de Medina, S., Bourdin, J., Sastre-Garau, X., Chopin, D., Thiery, J. P., Radvanyi, F.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471491</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471491" 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/10.1038/12615" target="_blank">Full Text</a>]
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Crook, T., Wrede, D., Tidy, J. A., Mason, W. P., Evans, D. J., Vousden, K. H.
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<strong>Clonal p53 mutation in primary cervical cancer: association with human-papillomavirus-negative tumours.</strong>
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Lancet 339: 1070-1073, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1349102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1349102</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1349102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0140-6736(92)90662-m" target="_blank">Full Text</a>]
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Fearon, E. R., Vogelstein, B.
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<strong>A genetic model for colorectal tumorigenesis.</strong>
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Cell 61: 759-767, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2188735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2188735</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2188735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0092-8674(90)90186-i" target="_blank">Full Text</a>]
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Hampton, G. M., Penny, L. A., Baergen, R. N., Larson, A., Brewer, C., Liao, S., Busby-Earle, R. M. C., Williams, A. W. R., Steel, C. M., Bird, C. C., Stanbridge, E. J., Evans, G. A.
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<strong>Loss of heterozygosity in cervical carcinoma: subchromosomal localization of a putative tumor-suppressor gene to chromosome 11q22-q24.</strong>
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Proc. Nat. Acad. Sci. 91: 6953-6957, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8041728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8041728</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8041728" 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/10.1073/pnas.91.15.6953" target="_blank">Full Text</a>]
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Kang, S., Kim, H.-S., Seo, S. S., Park, S.-Y., Sidransky, D., Dong, S. M.
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<strong>Inverse correlation between RASSF1A hypermethylation, KRAS and BRAF mutations in cervical adenocarcinoma.</strong>
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Gynec. Oncol. 105: 662-666, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17360030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17360030</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17360030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ygyno.2007.01.045" target="_blank">Full Text</a>]
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Magnusson, P. K. E., Sparen, P., Gyllensten, U. B.
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<strong>Genetic link to cervical tumours. (Letter)</strong>
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Nature 400: 29-30, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10403244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10403244</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10403244" 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/10.1038/21801" target="_blank">Full Text</a>]
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McIntyre, J. B., Wu, J. S., Craighead, P. S., Phan, T., Kobel, M., Lees-Miller, S. P., Ghatage, P., Magliocco, A. M., Doll, C. M.
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<strong>PIK3CA mutational status and overall survival in patients with cervical cancer treated with radical chemoradiotherapy.</strong>
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Gynec. Oncol. 128: 409-414, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23266353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23266353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23266353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ygyno.2012.12.019" target="_blank">Full Text</a>]
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Ojesina, A. I., Lichtenstein, L., Freeman, S. S., Pedamallu, C. S., Imaz-Rosshandler, I., Pugh, T. J., Cherniack, A. D., Ambrogio, L., Cibulskis, K., Bertelsen, B., Romero-Cordoba, S., Trevino, V., and 44 others.
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<strong>Landscape of genomic alterations in cervical carcinomas.</strong>
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Nature 506: 371-375, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24390348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24390348</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24390348[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=24390348" 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/nature12881" target="_blank">Full Text</a>]
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Wingo, S. N., Gallardo, T. D., Akbay, E. A., Liang, M.-C., Contreras, C. M., Boren, T., Shimamura, T., Miller, D. S., Sharpless, N. E., Bardeesy, N., Kwiatkowski, D. J., Schorge, J. O., Wong, K.-K., Castrillon, D. H.
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<strong>Somatic LKB1 mutations promote cervical cancer progression.</strong>
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PLoS One 4: e5137, 2009. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19340305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19340305</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19340305[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=19340305" 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/10.1371/journal.pone.0005137" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 04/24/2014
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alopez : 04/24/2014<br>terry : 6/3/2004<br>mgross : 1/31/2000<br>terry : 1/12/2000<br>carol : 6/30/1999<br>carol : 6/30/1999
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<strong>SNOMEDCT:</strong> 363354003;
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<strong>DO:</strong> 4362;
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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4p16.3
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Cervical cancer, somatic
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<span class="mim-font">
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603956
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3
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FGFR3
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134934
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<strong>TEXT</strong>
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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 various genes are involved in the causation of cervical cancer.</p>
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<strong>Pathogenesis</strong>
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<p>In the vast majority of cases, invasive carcinoma of the uterine cervix is thought to arise from preinvasive cervical intraepithelial neoplasias, designated CIN I-CIN III, which represent a pathologic continuum from mild to severe epithelial dysplasia. Only some cases of the more dysplastic lesions progress further to invasive carcinoma. Whereas most of the precursor lesions are readily curable, the prognosis for invasive carcinoma is generally poor, making the dissection of the molecular events that cause invasion considerably important. The observations are consistent with models describing a multistep genetic pathway for human tumorigenesis as proposed by Fearon and Vogelstein (1990) for colorectal cancer. Cervical cancer is strongly associated with infection by oncogenic types of human papillomavirus (HPV; see 167959 and 167960), but only a small fraction of those infected develop cancer, indicating that other factors contribute to the progression to cervical cancer. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>Magnusson et al. (1999) compared the incidence of cervical cancer in relatives of cases of cervical cancer and controls, and found a significant familial clustering among biologic, but not adoptive, relatives. They used the Swedish national registers to identify relatives of cases with cervical cancer (126,893 relatives of 71,533 cases) and randomly selected age-matched controls. The relative risk for biologic mothers to cases was 1.83, whereas for adopted mothers the relative risk was not significantly different from 1. The relative risk for biologic full sisters to cases was 1.93, whereas that for nonbiologic sisters to cases was 1. Examining second-degree relatives, Magnusson et al. (1999) found that half sisters to cases had a relative risk of 1.45, which is close to that expected if the familial aggregation seen for first-degree relatives is caused mainly by genetic factors. Vertical transmission of HPV does not explain the difference in risk for half sisters since the relative risk for half sisters to cases having a father in common or a mother in common was not different. Magnusson et al. (1999) concluded that the familial risk for cervical tumors is of the same magnitude as that seen for other forms of cancer, such as prostate cancer (176807), for which genetic contribution has long been recognized. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Pursuing the functional studies showing that human chromosome 11 contains a gene or genes capable of suppressing tumorigenicity in cell lines derived from different histopathologic types of cervical carcinoma, Hampton et al. (1994) carried out a systematic analysis of chromosome 11 in primary tumors of 32 patients with cervical carcinoma. To identify the likely chromosomal position of the relevant gene or genes, they used 16 highly polymorphic markers to compare matched DNA samples from noninvolved tissue and portions of tumor tissue highly enriched for neoplastic cells. Of the 32 patients examined, 14 (44%) demonstrated clonal genetic alterations resulting in loss of heterozygosity for 1 or more markers. From the fact that 7 of the clonal genetic alterations on chromosome 11 were specific to the long arm and by the overlap between these and other allelic deletions, Hampton et al. (1994) concluded that at least 1 suppressor gene relevant to cervical carcinoma maps to 11q22-q24 (see ST3; 191181). </p>
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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><strong><em>Somatic Mutation</em></strong></p><p>
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Cappellen et al. (1999) found constitutively activated FGFR3 (134934) in a large proportion of 2 common epithelial cancers, cervical cancer and bladder cancer (109800). The most frequent FGFR3 mutation identified in epithelial tumors was ser249 to cys (134934.0013), affecting 5 of 9 bladder cancers and 3 of 3 cervical cancers. </p><p>Ojesina et al. (2014) reported whole-exome sequencing analysis of 115 cervical carcinoma and normal tissue paired samples, transcriptome sequencing of 79 cases, and whole-genome sequencing of 14 tumor-normal pairs. Previously unknown somatic mutations in 79 primary squamous cell carcinomas included recurrent E322K substitutions in the MAPK1 gene (176948; 8%), inactivating mutations in the HLA-B gene (142830; 9%), and mutations in EP300 (602700; 16%), FBXW7 (606278; 15%), NFE2L2 (600492; 4%), TP53 (191170; 5%); and ERBB2 (164870; 6%). Ojesina et al. (2014) also observed somatic ELF3 (602191; 13%) and CBFB (121360; 8%) mutations in 24 adenocarcinomas. Squamous cell carcinomas have higher frequencies of somatic nucleotide substitutions occurring at cytosines preceded by thymines than adenocarcinomas. Gene expression levels at HPV integration sites were statistically significantly higher in tumors with HPV integration compared with expression of the same genes in tumors without viral integration at the same site. Ojesina et al. (2014) noted that somatic mutations in PIK3CA (171834), PTEN (601728), TP53, STK11 (602216) and KRAS (190070) had been implicated in several studies (Crook et al., 1992; McIntyre et al., 2013; Kang et al., 2007; Wingo et al., 2009). </p><p>The Cancer Genome Atlas Research Network (2017) reported the extensive molecular characterization of 228 primary cervical cancers and observed notable APOBEC (see 600130) mutagenesis patterns and identified SHKBP1 (617322), ERBB3 (190151), CASP8 (601763), HLA-A (142800), and TGFBR2 (190182) as novel significantly mutated genes in cervical cancer. The Cancer Genome Atlas Research Network (2017) also discovered amplifications in immune targets CD274 (also known as PDL1; 605402) and PDCD1LG2 (also known as PDL2; 605723), and the BCAR4 (613746) long noncoding RNA, which has been associated with response to lapatinib. Integration of human papilloma virus (HPV) was observed in all HPV18-related samples and 76% of HPV16-related samples, and was associated with structural aberrations and increased target gene expression. The Cancer Genome Atlas Research Network (2017) identified a unique set of endometrial-like cervical cancers, comprised predominantly of HPV-negative tumors with relatively high frequencies of KRAS, ARID1A (603024), and PTEN mutations. Integrative clustering of 178 samples identified keratin-low squamous, keratin-high squamous, and adenocarcinoma-rich subgroups. The Cancer Genome Atlas Research Network (2017) concluded that these molecular analyses revealed potential therapeutic targets for cervical cancers. </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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Cancer Genome Atlas Research Network.
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<strong>Integrated genomic and molecular characterization of cervical cancer.</strong>
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Nature 543: 378-384, 2017.
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[PubMed: 28112728]
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[Full Text: https://doi.org/10.1038/nature21386]
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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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Cappellen, D., De Oliveira, C., Ricol, D., Gil Diez de Medina, S., Bourdin, J., Sastre-Garau, X., Chopin, D., Thiery, J. P., Radvanyi, F.
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<strong>Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. (Letter)</strong>
|
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Nature Genet. 23: 18-20, 1999.
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[PubMed: 10471491]
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[Full Text: https://doi.org/10.1038/12615]
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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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Crook, T., Wrede, D., Tidy, J. A., Mason, W. P., Evans, D. J., Vousden, K. H.
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<strong>Clonal p53 mutation in primary cervical cancer: association with human-papillomavirus-negative tumours.</strong>
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Lancet 339: 1070-1073, 1992.
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[PubMed: 1349102]
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[Full Text: https://doi.org/10.1016/0140-6736(92)90662-m]
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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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Fearon, E. R., Vogelstein, B.
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<strong>A genetic model for colorectal tumorigenesis.</strong>
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Cell 61: 759-767, 1990.
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[PubMed: 2188735]
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[Full Text: https://doi.org/10.1016/0092-8674(90)90186-i]
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</li>
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<li>
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<p class="mim-text-font">
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Hampton, G. M., Penny, L. A., Baergen, R. N., Larson, A., Brewer, C., Liao, S., Busby-Earle, R. M. C., Williams, A. W. R., Steel, C. M., Bird, C. C., Stanbridge, E. J., Evans, G. A.
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<strong>Loss of heterozygosity in cervical carcinoma: subchromosomal localization of a putative tumor-suppressor gene to chromosome 11q22-q24.</strong>
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Proc. Nat. Acad. Sci. 91: 6953-6957, 1994.
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[PubMed: 8041728]
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[Full Text: https://doi.org/10.1073/pnas.91.15.6953]
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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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Kang, S., Kim, H.-S., Seo, S. S., Park, S.-Y., Sidransky, D., Dong, S. M.
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<strong>Inverse correlation between RASSF1A hypermethylation, KRAS and BRAF mutations in cervical adenocarcinoma.</strong>
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Gynec. Oncol. 105: 662-666, 2007.
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[PubMed: 17360030]
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[Full Text: https://doi.org/10.1016/j.ygyno.2007.01.045]
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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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Magnusson, P. K. E., Sparen, P., Gyllensten, U. B.
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<strong>Genetic link to cervical tumours. (Letter)</strong>
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Nature 400: 29-30, 1999.
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[PubMed: 10403244]
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[Full Text: https://doi.org/10.1038/21801]
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</p>
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<li>
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<p class="mim-text-font">
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McIntyre, J. B., Wu, J. S., Craighead, P. S., Phan, T., Kobel, M., Lees-Miller, S. P., Ghatage, P., Magliocco, A. M., Doll, C. M.
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<strong>PIK3CA mutational status and overall survival in patients with cervical cancer treated with radical chemoradiotherapy.</strong>
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Gynec. Oncol. 128: 409-414, 2013.
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[PubMed: 23266353]
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[Full Text: https://doi.org/10.1016/j.ygyno.2012.12.019]
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</li>
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<li>
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<p class="mim-text-font">
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Ojesina, A. I., Lichtenstein, L., Freeman, S. S., Pedamallu, C. S., Imaz-Rosshandler, I., Pugh, T. J., Cherniack, A. D., Ambrogio, L., Cibulskis, K., Bertelsen, B., Romero-Cordoba, S., Trevino, V., and 44 others.
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<strong>Landscape of genomic alterations in cervical carcinomas.</strong>
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Nature 506: 371-375, 2014.
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[PubMed: 24390348]
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[Full Text: https://doi.org/10.1038/nature12881]
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</li>
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<li>
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<p class="mim-text-font">
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Wingo, S. N., Gallardo, T. D., Akbay, E. A., Liang, M.-C., Contreras, C. M., Boren, T., Shimamura, T., Miller, D. S., Sharpless, N. E., Bardeesy, N., Kwiatkowski, D. J., Schorge, J. O., Wong, K.-K., Castrillon, D. H.
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<strong>Somatic LKB1 mutations promote cervical cancer progression.</strong>
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PLoS One 4: e5137, 2009. Note: Electronic Article.
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[PubMed: 19340305]
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[Full Text: https://doi.org/10.1371/journal.pone.0005137]
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Contributors:
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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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Ada Hamosh - updated : 04/24/2014<br>Victor A. McKusick - updated : 1/12/2000
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Ada Hamosh : 6/30/1999
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alopez : 05/22/2017<br>alopez : 04/24/2014<br>terry : 6/3/2004<br>mgross : 1/31/2000<br>terry : 1/12/2000<br>carol : 6/30/1999<br>carol : 6/30/1999
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OMIM Donation:
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</h4>
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<p>
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Dear OMIM User,
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<p>
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To ensure long-term funding for the OMIM project, we have diversified
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our revenue stream. We are determined to keep this website freely
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accessible. Unfortunately, it is not free to produce. Expert curators
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review the literature and organize it to facilitate your work. Over 90%
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of the OMIM's operating expenses go to salary support for MD and PhD
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science writers and biocurators. Please join your colleagues by making a
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donation now and again in the future. Donations are an important
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component of our efforts to ensure long-term funding to provide you the
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information that you need at your fingertips.
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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