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<meta name="keywords" content="C3280492, bap1, bap1 tumor predisposition syndrome, bap1 tumour predisposition syndrome, bap1-related tumor predisposition syndrome, common syndrome, disease or syndrome, tpds, tpds1, tumor predisposition syndrome, tumor predisposition syndrome 1, tumor susceptibility linked to germline bap1 mutations, tumour predisposition syndrome, tumour susceptibility linked to germline bap1 mutations, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="BAP1 tumor predisposition syndrome (BAP1-TPDS) is associated with an increased risk for a specific skin lesion, BAP1-inactivated melanocytic tumors (BIMT; formerly called atypical Spitz tumors), and the following cancers, in descending order of frequency: uveal (eye) melanoma (UM), malignant mesothelioma (MMe), cutaneous melanoma (CM), renal cell carcinoma (RCC), basal cell carcinoma (BCC), meningioma, and cholangiocarcinoma. Onychopapillomas, hepatocellular carcinoma, and ovarian sex cord-stromal tumors may also be associated with BAP1-TPDS. Affected individuals can have more than one type of primary cancer. In general, the median age of onset of these tumors is younger than in the general population. UM tends to be a more aggressive class 2 tumor with higher risk for metastasis and reduced survival compared to UM occurring in the general population. RCC is usually of clear cell morphology, but other pathologies have been reported. MMe, especially pleural, has better survival and responds better to platinum chemotherapy than MMe not associated with a germline BAP1 pathogenic variant. The penetrance, natural history, life-time cancer risk for carriers, and frequencies of BAP1-associated tumors are yet to be fully determined." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=482122
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ConceptID=C3280492
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">BAP1-related tumor predisposition syndrome<span class="h1sub">(TPDS1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482122</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3280492</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>BAP1 tumor predisposition syndrome; COMMON Syndrome; TPDS1; Tumor predisposition syndrome; TUMOR PREDISPOSITION SYNDROME 1; Tumor susceptibility linked to germline BAP1 mutations</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="BAP1 - ID: 8314 - NCBI Gene" href="/gene/8314" class="medgenPMinfo">BAP1</a> (3p21.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013692" target="_blank">MONDO:0013692</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614327" target="_blank">614327</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289539">ORPHA289539</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK390611" target="_blank">BAP1 Tumor Predisposition Syndrome</a></div><div>BAP1 tumor predisposition syndrome (BAP1-TPDS) is associated with an increased risk for a specific skin lesion, BAP1-inactivated melanocytic tumors (BIMT; formerly called atypical Spitz tumors), and the following cancers, in descending order of frequency: uveal (eye) melanoma (UM), malignant mesothelioma (MMe), cutaneous melanoma (CM), renal cell carcinoma (RCC), basal cell carcinoma (BCC), meningioma, and cholangiocarcinoma. Onychopapillomas, hepatocellular carcinoma, and ovarian sex cord-stromal tumors may also be associated with BAP1-TPDS. Affected individuals can have more than one type of primary cancer. In general, the median age of onset of these tumors is younger than in the general population. UM tends to be a more aggressive class 2 tumor with higher risk for metastasis and reduced survival compared to UM occurring in the general population. RCC is usually of clear cell morphology, but other pathologies have been reported. MMe, especially pleural, has better survival and responds better to platinum chemotherapy than MMe not associated with a germline BAP1 pathogenic variant. The penetrance, natural history, life-time cancer risk for carriers, and frequencies of BAP1-associated tumors are yet to be fully determined. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK390611#bap1-tpds.Summary" target="NBK390611">Summary</a> | <a class="medgenPMinfo" href="/books/NBK390611#bap1-tpds.Diagnosis" target="NBK390611">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK390611#bap1-tpds.Clinical_Characteristics" target="NBK390611">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK390611#bap1-tpds.Genetically_Related_Allelic_Di" target="NBK390611">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK390611#bap1-tpds.Differential_Diagnosis" target="NBK390611">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK390611#bap1-tpds.Management" target="NBK390611">Management</a> | <a class="medgenPMinfo" href="/books/NBK390611#bap1-tpds.Genetic_Counseling" target="NBK390611">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK390611#bap1-tpds.Resources" target="NBK390611">Resources</a> | <a class="medgenPMinfo" href="/books/NBK390611#bap1-tpds.Molecular_Genetics" target="NBK390611">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK390611#bap1-tpds.Chapter_Notes" target="NBK390611">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK390611#bap1-tpds.References" target="NBK390611">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Robert Pilarski | Lindsey Byrne | Maria I Carlo<i>, et. al.</i> <a href="/books/NBK390611" target="NBK390611" title="NCBI Bookshelf: BAP1 Tumor Predisposition Syndrome">view full author information</a></div></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Tumor predisposition syndrome-1 (TPDS1) is inherited in an autosomal dominant pattern. Individuals carrying heterozygous BAP1 mutations are at high-risk for the development of a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma (155720), cutaneous melanoma (155600), malignant mesothelioma on exposure to asbestos (156240), and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma (summary by Wiesner et al., 2011, Testa et al., 2011, Abdel-Rahman et al., 2011, and Popova et al., 2013).
|
||
Genetic Heterogeneity of Tumor Predisposition Syndrome
|
||
See also TPDS2 (619975), caused by mutation in the MBD4 gene (603574) on chromosome 3q21; TPDS3 (615848), caused by mutation in the POT1 gene (606478) on chromosome 7q31; and TPDS4 (609265), caused by mutation in the CHEK2 gene (604373) on chromosome 22q12. <a target="_blank" href="http://www.omim.org/entry/614327">http://www.omim.org/entry/614327</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium). Affected individuals can develop one or more types of tumor, and affected members of the same family can have different types.<br /><br />Some people with BAP1 tumor predisposition syndrome develop growths in the skin known as atypical Spitz tumors. People with this syndrome may have more than one of these tumors, and they can have dozens. Atypical Spitz tumors are generally considered benign, although it is unclear if they can become cancerous. Skin cancers are also associated with BAP1 tumor predisposition syndrome, including cutaneous melanoma and basal cell carcinoma.<br /><br />A type of eye cancer called uveal melanoma is the most common cancerous tumor in BAP1 tumor predisposition syndrome. Although uveal melanoma does not usually cause any symptoms, some people with this type of cancer have blurred vision; small, moving dots (floaters) or flashes of light in their vision; headaches; or a visible dark spot on the eye.<br /><br />People with BAP1 tumor predisposition syndrome are at risk of developing malignant mesothelioma, which is cancer of the mesothelium. When associated with BAP1 tumor predisposition syndrome, malignant mesothelioma most often occurs in the membrane that lines the abdomen and covers the abdominal organs (the peritoneum). It less commonly occurs in the outer covering of the lungs (the pleura).<br /><br />A form of kidney cancer called clear cell renal cell carcinoma is also associated with the condition. Researchers are still determining whether other forms of cancer are linked to BAP1 tumor predisposition syndrome.<br /><br />When they occur in people with BAP1 tumor predisposition syndrome, cancers tend to arise at a younger age and are often more aggressive than cancers in the general population. The cancerous tumors in BAP1 tumor predisposition syndrome tend to spread (metastasize) to other parts of the body. Survival of affected individuals with this syndrome is usually shorter than in other people who have one of these cancers. However, individuals with malignant mesothelioma as part of the BAP1 tumor predisposition syndrome appear to survive longer than those who have the cancer without the syndrome. <a target="_blank" href="https://medlineplus.gov/genetics/condition/bap1-tumor-predisposition-syndrome">https://medlineplus.gov/genetics/condition/bap1-tumor-predisposition-syndrome</a></div></div>
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||
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|
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<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_766"><div><strong>Renal cell carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0007134</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766">Feature record</a> | <a href="/medgen?term=%22Renal%20cell%20carcinoma%22%5BClinical%20Features%5D%20OR%20766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57486"><div><strong>Malignant melanoma of skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57486</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.\n\nMost melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize).\n\nMelanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.\n\nMelanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57486">Feature record</a> | <a href="/medgen?term=%22Malignant%20melanoma%20of%20skin%22%5BClinical%20Features%5D%20OR%2057486%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57744"><div><strong>Lung adenocarcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57744</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0152013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57744">Feature record</a> | <a href="/medgen?term=%22Lung%20adenocarcinoma%22%5BClinical%20Features%5D%20OR%2057744%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_91062"><div><strong>Mesothelioma, malignant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91062</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0345967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Malignant mesothelioma is an aggressive neoplasm of the serosal lining of the chest etiologically linked to asbestos. It is diagnosed in approximately 2,000 to 3,000 individuals annually in the United States, most of whom die within 2 years of diagnosis (summary by Bott et al., 2011). See also 614327 for a tumor predisposition syndrome that may contribute to the development of malignant mesothelioma upon asbestos exposure and is caused by germline mutation in the BAP1 gene (603089) on chromosome 3p21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91062">Feature record</a> | <a href="/medgen?term=%22Mesothelioma%2C%20malignant%22%5BClinical%20Features%5D%20OR%2091062%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7532"><div><strong>Meningioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7532</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0025286</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7532">Feature record</a> | <a href="/medgen?term=%22Meningioma%22%5BClinical%20Features%5D%20OR%207532%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65077"><div><strong>Uveal melanoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65077</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0220633</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Uveal melanoma is a highly malignant tumor that arises from the choroid or the ciliary body of the eye. It is the most common primary ocular malignancy in adults, although it has a low incidence (6 cases per 1,000,000 per year). A tendency for hematogenic spread to the liver accounts for up to 50% of patient deaths (summary by Lopez et al., 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65077">Feature record</a> | <a href="/medgen?term=%22Uveal%20melanoma%22%5BClinical%20Features%5D%20OR%2065077%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Uveal melanoma</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meningioma</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57744" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lung adenocarcinoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57486" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malignant melanoma of skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_91062" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mesothelioma, malignant</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cell carcinoma</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280492[DISCUI]&test_type=Clinical" ref="ncbi_uid=482122">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482122" target="_blank" href="/omim/603089">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK390611/" ref="ncbi_uid=482122">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=482122" ref="ncbi_uid=482122">V</a></span></span><span class="TLline">BAP1-related tumor predisposition syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/14326" ref="tree=MeSH" title="MedGen record for Hereditary cancer-predisposing syndrome">Hereditary cancer-predisposing syndrome</a></span><ul><li><span class="matched_ds">BAP1-related tumor predisposition syndrome</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=20737&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">BAP1-related tumor predisposition syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34227091">Inherited predisposition to malignant mesothelioma: germline BAP1 mutations and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pagliuca F,
|
||
Zito Marino F,
|
||
Morgillo F,
|
||
Della Corte C,
|
||
Santini M,
|
||
Vicidomini G,
|
||
Guggino G,
|
||
De Dominicis G,
|
||
Campione S,
|
||
Accardo M,
|
||
Cozzolino I,
|
||
Franco R</span><br />
|
||
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
|
||
2021 Jun;25(12):4236-4246.
|
||
doi: 10.26355/eurrev_202106_26129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34227091" target="_blank">34227091</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33513031">Microsimulation Model for Evaluating the Cost-Effectiveness of Surveillance in BAP1 Pathogenic Variant Carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walpole S,
|
||
Hayward NK,
|
||
Pritchard AL,
|
||
Johansson PA</span><br />
|
||
<span class="medgenPMjournal">JCO Clin Cancer Inform</span>
|
||
2021 Jan;5:143-154.
|
||
doi: 10.1200/CCI.20.00124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33513031" target="_blank">33513031</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21874000">Germline BAP1 mutations predispose to malignant mesothelioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Testa JR,
|
||
Cheung M,
|
||
Pei J,
|
||
Below JE,
|
||
Tan Y,
|
||
Sementino E,
|
||
Cox NJ,
|
||
Dogan AU,
|
||
Pass HI,
|
||
Trusa S,
|
||
Hesdorffer M,
|
||
Nasu M,
|
||
Powers A,
|
||
Rivera Z,
|
||
Comertpay S,
|
||
Tanji M,
|
||
Gaudino G,
|
||
Yang H,
|
||
Carbone M</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2011 Aug 28;43(10):1022-5.
|
||
doi: 10.1038/ng.912.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21874000" target="_blank">21874000</a><a href="/pmc/articles/PMC3184199" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22BAP1-related%20tumor%20predisposition%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36410977">Pediatric Cutaneous Oncology: Genodermatoses and Cancer Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turbeville JG,
|
||
Hand JL</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2023 Jan;41(1):175-185.
|
||
Epub 2022 Oct 28
|
||
doi: 10.1016/j.det.2022.07.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36410977" target="_blank">36410977</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34227091">Inherited predisposition to malignant mesothelioma: germline BAP1 mutations and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pagliuca F,
|
||
Zito Marino F,
|
||
Morgillo F,
|
||
Della Corte C,
|
||
Santini M,
|
||
Vicidomini G,
|
||
Guggino G,
|
||
De Dominicis G,
|
||
Campione S,
|
||
Accardo M,
|
||
Cozzolino I,
|
||
Franco R</span><br />
|
||
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
|
||
2021 Jun;25(12):4236-4246.
|
||
doi: 10.26355/eurrev_202106_26129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34227091" target="_blank">34227091</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33513031">Microsimulation Model for Evaluating the Cost-Effectiveness of Surveillance in BAP1 Pathogenic Variant Carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walpole S,
|
||
Hayward NK,
|
||
Pritchard AL,
|
||
Johansson PA</span><br />
|
||
<span class="medgenPMjournal">JCO Clin Cancer Inform</span>
|
||
2021 Jan;5:143-154.
|
||
doi: 10.1200/CCI.20.00124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33513031" target="_blank">33513031</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28560743">Occurrence of BAP1 germline mutations in cutaneous melanocytic tumors with loss of BAP1-expression: A pilot study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cabaret O,
|
||
Perron E,
|
||
Bressac-de Paillerets B,
|
||
Soufir N,
|
||
de la Fouchardière A</span><br />
|
||
<span class="medgenPMjournal">Genes Chromosomes Cancer</span>
|
||
2017 Sep;56(9):691-694.
|
||
Epub 2017 Jun 23
|
||
doi: 10.1002/gcc.22473.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28560743" target="_blank">28560743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21874000">Germline BAP1 mutations predispose to malignant mesothelioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Testa JR,
|
||
Cheung M,
|
||
Pei J,
|
||
Below JE,
|
||
Tan Y,
|
||
Sementino E,
|
||
Cox NJ,
|
||
Dogan AU,
|
||
Pass HI,
|
||
Trusa S,
|
||
Hesdorffer M,
|
||
Nasu M,
|
||
Powers A,
|
||
Rivera Z,
|
||
Comertpay S,
|
||
Tanji M,
|
||
Gaudino G,
|
||
Yang H,
|
||
Carbone M</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2011 Aug 28;43(10):1022-5.
|
||
doi: 10.1038/ng.912.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21874000" target="_blank">21874000</a><a href="/pmc/articles/PMC3184199" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22BAP1-related%20tumor%20predisposition%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33513031">Microsimulation Model for Evaluating the Cost-Effectiveness of Surveillance in BAP1 Pathogenic Variant Carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walpole S,
|
||
Hayward NK,
|
||
Pritchard AL,
|
||
Johansson PA</span><br />
|
||
<span class="medgenPMjournal">JCO Clin Cancer Inform</span>
|
||
2021 Jan;5:143-154.
|
||
doi: 10.1200/CCI.20.00124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33513031" target="_blank">33513031</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22BAP1-related%20tumor%20predisposition%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34227091">Inherited predisposition to malignant mesothelioma: germline BAP1 mutations and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pagliuca F,
|
||
Zito Marino F,
|
||
Morgillo F,
|
||
Della Corte C,
|
||
Santini M,
|
||
Vicidomini G,
|
||
Guggino G,
|
||
De Dominicis G,
|
||
Campione S,
|
||
Accardo M,
|
||
Cozzolino I,
|
||
Franco R</span><br />
|
||
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
|
||
2021 Jun;25(12):4236-4246.
|
||
doi: 10.26355/eurrev_202106_26129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34227091" target="_blank">34227091</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33513031">Microsimulation Model for Evaluating the Cost-Effectiveness of Surveillance in BAP1 Pathogenic Variant Carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walpole S,
|
||
Hayward NK,
|
||
Pritchard AL,
|
||
Johansson PA</span><br />
|
||
<span class="medgenPMjournal">JCO Clin Cancer Inform</span>
|
||
2021 Jan;5:143-154.
|
||
doi: 10.1200/CCI.20.00124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33513031" target="_blank">33513031</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23849051">Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheung M,
|
||
Talarchek J,
|
||
Schindeler K,
|
||
Saraiva E,
|
||
Penney LS,
|
||
Ludman M,
|
||
Testa JR</span><br />
|
||
<span class="medgenPMjournal">Cancer Genet</span>
|
||
2013 May;206(5):206-10.
|
||
doi: 10.1016/j.cancergen.2013.05.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23849051" target="_blank">23849051</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22BAP1-related%20tumor%20predisposition%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33513031">Microsimulation Model for Evaluating the Cost-Effectiveness of Surveillance in BAP1 Pathogenic Variant Carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walpole S,
|
||
Hayward NK,
|
||
Pritchard AL,
|
||
Johansson PA</span><br />
|
||
<span class="medgenPMjournal">JCO Clin Cancer Inform</span>
|
||
2021 Jan;5:143-154.
|
||
doi: 10.1200/CCI.20.00124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33513031" target="_blank">33513031</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23849051">Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheung M,
|
||
Talarchek J,
|
||
Schindeler K,
|
||
Saraiva E,
|
||
Penney LS,
|
||
Ludman M,
|
||
Testa JR</span><br />
|
||
<span class="medgenPMjournal">Cancer Genet</span>
|
||
2013 May;206(5):206-10.
|
||
doi: 10.1016/j.cancergen.2013.05.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23849051" target="_blank">23849051</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21874000">Germline BAP1 mutations predispose to malignant mesothelioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Testa JR,
|
||
Cheung M,
|
||
Pei J,
|
||
Below JE,
|
||
Tan Y,
|
||
Sementino E,
|
||
Cox NJ,
|
||
Dogan AU,
|
||
Pass HI,
|
||
Trusa S,
|
||
Hesdorffer M,
|
||
Nasu M,
|
||
Powers A,
|
||
Rivera Z,
|
||
Comertpay S,
|
||
Tanji M,
|
||
Gaudino G,
|
||
Yang H,
|
||
Carbone M</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2011 Aug 28;43(10):1022-5.
|
||
doi: 10.1038/ng.912.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21874000" target="_blank">21874000</a><a href="/pmc/articles/PMC3184199" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22BAP1-related%20tumor%20predisposition%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3280492%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (37)</a></li>
|
||
<li><a href="/gtr/tests?term=C3280492%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C3280492%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3280492%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C3280492%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3280492%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (46)</a></li>
|
||
<li><a href="/gtr/tests?term=C3280492%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3280492%5bDISCUI%5d" target="_blank">See all (53)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=614327" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=289539" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=BAP1-related%20tumor%20predisposition%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22BAP1-related%20tumor%20predisposition%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=603089" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=8314[geneid]" target="_blank">View BAP1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=614327" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/TUMOR+PREDISPOSITION+SYNDROME/9432" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/tumor_predisposition_syndrome_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=BAP1-related%20tumor%20predisposition%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/bap1-tumor-predisposition-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/13219/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/27748099" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=BAP1-related%20tumor%20predisposition%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=BAP1-related%20tumor%20predisposition%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=482122" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=482122" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3280492[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3280492[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=482122" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=482122" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=482122" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=482122" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=482122" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=482122" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=482122" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
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|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
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|
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<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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||
Turn Off
|
||
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|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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||
Turn On
|
||
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|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca6c72a68b6b5afc6e5be0">BAP1-related tumor predisposition syndrome</a>
|
||
<div class="ralinkpop offscreen_noflow">BAP1-related tumor predisposition syndrome<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ca6c71b15b832ebc036f96">C3280492[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca6c7084f3725e5930efe3">C1832812[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(72)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C1832812[trait identifier] AND "Labcorp Genetics (formerly Invitae), Labcorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ca6c6f84f3725e5930e439">Ayme-Gripp syndrome</a>
|
||
<div class="ralinkpop offscreen_noflow">Ayme-Gripp syndrome<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67ca6c6ef4a390645e3ad5e6">C1832812[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
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|
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