BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 Biomarker disease BEFREE In conclusion, BAP1 loss demonstrated by IHC is seen in more than half of MM cases but none of ATs. 30640754 2020
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 GeneticVariation disease BEFREE Recent reports have highlighted the role of the <i>BRCA1 associated protein 1 gene</i> (<i>BAP1</i>) in the development of MMe. 30669483 2019
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 AlteredExpression disease BEFREE Diagnostic value of BRCA1-associated protein-1, glucose transporter-1 and desmin expression in the discrimination between reactive mesothelial proliferation and malignant mesothelioma in tissues and effusions. 31165505 2019
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 Biomarker disease BEFREE While homozygous CKO of <i>Bap1, Cdkn2a</i>, or <i>Nf2</i> alone gave rise to few or no malignant mesotheliomas, inactivation of <i>Bap1</i> cooperated with loss of either <i>Nf2</i> or <i>Cdkn2a</i> to drive development of malignant mesothelioma in approximately 20% of double-CKO mice, and a high incidence (22/26, 85%) of malignant mesotheliomas was observed in <i>Bap1;Nf2;Cdkn2a</i> (triple)-CKO mice. 31151962 2019
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 Biomarker disease BEFREE MM was more likely to show loss of BAP1 than RMC (P < .001); and peritoneal MM was more likely to demonstrate loss of BAP1 than pleural MM (P = .04). 30520251 2019
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 GeneticVariation disease BEFREE BAP1-TPDS is associated with an increased risk of developing uveal melanoma (UM), cutaneous melanoma (CM), malignant mesothelioma (MMe), renal cell carcinoma (RCC), meningioma, cholangiocarcinoma, multiple non-melanoma skin cancers, and <i>BAP1</i>-inactivated nevi. 31382694 2019
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 GeneticVariation disease BEFREE Other than in BAP1 familial studies, nonmesothelial neoplasms in individuals with MM has not been comprehensively assessed. 29528717 2018
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 Biomarker disease BEFREE The present study supports the role of BAP1 as a highly sensitive and specific marker for malignant mesothelioma in serous effusions and argues for inclusion of this test in all specimens in which this diagnosis is considered. 29802871 2018
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 GeneticVariation disease BEFREE Nevertheless, this study strengthens the suspicion that, next to germline BAP1 alterations, other genetic factors might predispose families to the development of MM. 29961174 2018
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 Biomarker disease BEFREE The most frequently altered genes in human MM are cyclin-dependent kinase inhibitor 2A (CDKN2A), which encodes components of the p53 (p14ARF) and RB (p16INK4A) pathways, BRCA1-associated protein 1 (BAP1), and neurofibromatosis 2 (NF2). 29904909 2018
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 Biomarker disease BEFREE We identified BAP1, CDKN2A and NF2 alterations in the cells from MM pleural effusions at a higher frequency than what is typically seen in MM tumours from surgical series. 29656754 2018
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 Biomarker disease BEFREE All BAP1-negative cases with a differential diagnosis of benign and malignant mesothelial proliferations were MM at follow-up. 28994508 2018
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 Biomarker disease BEFREE All 3 cases showed BAP1 loss in both WDPM and the matched MM. 29763720 2018
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 AlteredExpression disease BEFREE BAP1 expression was also lost in 1 case of probable MM. 29076876 2018
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 Biomarker disease BEFREE Here we describe a screen of 94 drugs in 15 exome-sequenced MM lines and the discovery of a subset defined by loss of function of the nuclear deubiquitinase BRCA associated protein-1 (BAP1) that demonstrate heightened sensitivity to TRAIL (tumour necrosis factor-related apoptosis-inducing ligand). 29345617 2018
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 GeneticVariation disease BEFREE The odds of carrying a mutation in BAP1 (OR, 1,658; 95% CI, 199 to 76,224; P < .001), BRCA2 (OR, 5; 95% CI, 1.0 to 14.7; P = .03), CDKN2A (OR, 53; 95% CI, 6 to 249; P < .001), TMEM127 (OR, 88; 95% CI, 1.7 to 1,105; P = .01), VHL (OR, 51; 95% CI, 1.1 to 453; P = .02), and WT1 (OR, 20; 95% CI, 0.5 to 135; P = .049) were significantly higher in MM cases than in a noncancer control population. 30113886 2018
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 GeneticVariation disease BEFREE Germline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and renal cell carcinoma. 30477459 2018
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 Biomarker disease CTD_human Long-Fiber Carbon Nanotubes Replicate Asbestos-Induced Mesothelioma with Disruption of the Tumor Suppressor Gene Cdkn2a (Ink4a/Arf). 29112861 2017
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 GeneticVariation disease BEFREE Sporadic BAP1 mutations are common and are associated with improved survival in MM, contrary to other malignancies. 29085180 2017
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 Biomarker disease BEFREE PubMed, Embase and the Cochrane Library and reference lists of related articles were searched, and studies that evaluated the utility of BAP1 in MM were included. 28978163 2017
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 GeneticVariation disease BEFREE To evaluate the possible role of BAP1 mutations in the epidemiology of sporadic MM, and their relationship with asbestos exposure, we determined the prevalence of germline BAP1 mutations by the Sanger method in a group of 29 asbestos-exposed patients, 21 of which were diagnosed with MM. 28551647 2017
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 AlteredExpression disease BEFREE BAP1 loss and high EZH2 expression were highly specific to malignant mesothelioma in differentiating it from benign mesothelial proliferations, and the combination of these two markers improved the diagnostic accuracy. 27859460 2017
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 Biomarker disease BEFREE In the distinction of malignant mesothelioma from benign mesothelial proliferations, immunohistochemical loss of BAP1, the protein expressed by the BAP1 gene, has proven highly specific for malignant mesothelioma. 27984124 2017
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 GeneticVariation disease BEFREE All carriers of inherited heterozygous germline BAP1-inactivating mutations (BAP1<sup>+/-</sup>) developed one and often several BAP1<sup>-/-</sup> malignancies in their lifetime, mostly malignant mesothelioma, uveal melanoma, and so on. 28614305 2017
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.500 GeneticVariation disease BEFREE In summary, we found that in MM: (i) multiple minute simultaneous biallelic deletions are frequent in chromosome 3p21, where they occur as distinct events involving multiple genes; (ii) in addition to BAP1, mutations of SETD2, PBRM1, and SMARCC1 are frequent in MM; and (iii) our results suggest that high-density aCGH combined with tNGS provides a more precise estimate of the frequency and types of genes inactivated in human cancer than approaches based exclusively on NGS strategy. 27834213 2016