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Entry
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- #614740 - BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7; BCC7
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- OMIM
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<p>
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<span class="h4">#614740</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/614740"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></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="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=BASAL CELL CARCINOMA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614740[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 style="display: table-cell;">Animal Models</div>
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<div><a href="https://omia.org/OMIA001990/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<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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614740
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</span>
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</span>
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<h3>
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BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7; BCC7
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<br />
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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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Location
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<th>
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Phenotype
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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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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<a href="/geneMap/17/175?start=-3&limit=10&highlight=175">
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17p13.1
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<span class="mim-font">
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{Basal cell carcinoma 7}
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<td>
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<span class="mim-font">
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<a href="/entry/614740"> 614740 </a>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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TP53
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<span class="mim-font">
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<a href="/entry/191170"> 191170 </a>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/614740" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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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/614740" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/614740" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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- Basal cell carcinoma, cutaneous <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4747677&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4747677</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Susceptibility conferred by mutation in the tumor protein p53 gene (TP53, <a href="/entry/191170#0041">191170.0041</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</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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<p>A number sign (#) is used with this entry because of evidence that susceptibility to basal cell carcinoma-7 (BCC7) is influenced by variation in the TP53 gene (<a href="/entry/191170">191170</a>) on chromosome 17p13.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of basal cell carcinoma, see BCC1 (<a href="/entry/605462">605462</a>).</p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Molecular Genetics</strong>
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<p>To identify risk variants for cutaneous basal cell carcinoma, <a href="#1" class="mim-tip-reference" title="Stacey, S. N., Sulem, P., Jonasdottir, A., Masson, G., Gudmundsson, J., Gudbjartsson, D. F., Magnusson, O. T., Gudjonsson, S. A., Sigurgeirsson, B., Thorisdottir, K., Ragnarsson, R., Benediktsdottir, K. R., and 92 others. <strong>A germline variant in TP53 polyadenylation signal confers cancer susceptibility.</strong> Nature Genet. 43: 1098-1103, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21946351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21946351</a>] [<a href="https://doi.org/10.1038/ng.926" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21946351">Stacey et al. (2011)</a> performed a genomewide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. They imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs78378222;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs78378222</a>C (<a href="/entry/191170#0041">191170.0041</a>) (odds ratio (OR) = 2.36, p = 5.2 x 10(-17)), which has a frequency of 0.0192 in the Icelandic population. <a href="#1" class="mim-tip-reference" title="Stacey, S. N., Sulem, P., Jonasdottir, A., Masson, G., Gudmundsson, J., Gudbjartsson, D. F., Magnusson, O. T., Gudjonsson, S. A., Sigurgeirsson, B., Thorisdottir, K., Ragnarsson, R., Benediktsdottir, K. R., and 92 others. <strong>A germline variant in TP53 polyadenylation signal confers cancer susceptibility.</strong> Nature Genet. 43: 1098-1103, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21946351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21946351</a>] [<a href="https://doi.org/10.1038/ng.926" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21946351">Stacey et al. (2011)</a> then confirmed this association in non-Icelandic samples (OR = 1.75, p = 0.0060; overall OR = 2.16, p = 2.2 x 10(-20)). <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs78378222;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs78378222</a> is in the 3-prime untranslated region of TP53 (<a href="/entry/191170">191170</a>) and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3-prime-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (see <a href="/entry/176807">176807</a>) (OR = 1.44, p = 2.4 x 10(-6)), glioma (OR = 2.35, p = 1.0 x 10(-5)), and colorectal adenoma (see <a href="/entry/608812">608812</a>) (OR = 1.39, p = 1.6 x 10(-4)). There was no observed effect for breast cancer (see <a href="/entry/114480">114480</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21946351" 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 id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<p />
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<a id="1" class="mim-anchor"></a>
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<a id="Stacey2011" class="mim-anchor"></a>
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Stacey, S. N., Sulem, P., Jonasdottir, A., Masson, G., Gudmundsson, J., Gudbjartsson, D. F., Magnusson, O. T., Gudjonsson, S. A., Sigurgeirsson, B., Thorisdottir, K., Ragnarsson, R., Benediktsdottir, K. R., and 92 others.
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<strong>A germline variant in TP53 polyadenylation signal confers cancer susceptibility.</strong>
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Nature Genet. 43: 1098-1103, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21946351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21946351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21946351" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.926" target="_blank">Full Text</a>]
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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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 : 7/25/2012
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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carol : 10/21/2019
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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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alopez : 07/25/2012
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<span class="mim-font">
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<strong>#</strong> 614740
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<h3>
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BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7; BCC7
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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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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17p13.1
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{Basal cell carcinoma 7}
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<span class="mim-font">
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614740
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Autosomal dominant
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<span class="mim-font">
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3
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TP53
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191170
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<span class="mim-font">
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<strong>TEXT</strong>
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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 susceptibility to basal cell carcinoma-7 (BCC7) is influenced by variation in the TP53 gene (191170) on chromosome 17p13.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of basal cell carcinoma, see BCC1 (605462).</p>
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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 class="mim-text-font">
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<p>To identify risk variants for cutaneous basal cell carcinoma, Stacey et al. (2011) performed a genomewide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. They imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222C (191170.0041) (odds ratio (OR) = 2.36, p = 5.2 x 10(-17)), which has a frequency of 0.0192 in the Icelandic population. Stacey et al. (2011) then confirmed this association in non-Icelandic samples (OR = 1.75, p = 0.0060; overall OR = 2.16, p = 2.2 x 10(-20)). rs78378222 is in the 3-prime untranslated region of TP53 (191170) and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3-prime-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (see 176807) (OR = 1.44, p = 2.4 x 10(-6)), glioma (OR = 2.35, p = 1.0 x 10(-5)), and colorectal adenoma (see 608812) (OR = 1.39, p = 1.6 x 10(-4)). There was no observed effect for breast cancer (see 114480). </p>
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<strong>REFERENCES</strong>
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Stacey, S. N., Sulem, P., Jonasdottir, A., Masson, G., Gudmundsson, J., Gudbjartsson, D. F., Magnusson, O. T., Gudjonsson, S. A., Sigurgeirsson, B., Thorisdottir, K., Ragnarsson, R., Benediktsdottir, K. R., and 92 others.
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<strong>A germline variant in TP53 polyadenylation signal confers cancer susceptibility.</strong>
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Nature Genet. 43: 1098-1103, 2011.
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[PubMed: 21946351]
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[Full Text: https://doi.org/10.1038/ng.926]
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Creation Date:
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<span class="mim-text-font">
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Ada Hamosh : 7/25/2012
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Edit History:
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