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: C0025286
Disease: Meningioma
Meningioma
0.690 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: C0025286
Disease: Meningioma
Meningioma
0.690 GeneticVariation disease BEFREE KLF4 mutations are specific for secretory histology, and BAP1 alterations are common in progressive rhabdoid meningiomas. 30379704 2018
CUI: C0025286
Disease: Meningioma
Meningioma
0.690 GeneticVariation disease BEFREE Although there have been reports of sarcomas and meningiomas in patients affected with BAP1 mutations, to our knowledge malignant peripheral nerve sheath tumors in this patient population have not been previously reported. 29061454 2018
CUI: C0025286
Disease: Meningioma
Meningioma
0.690 Biomarker disease BEFREE BAP1 (BRCA1-associated protein 1) is a tumor suppressor gene that is associated with multiple tumors, including rhabdoid meningiomas. 29981911 2018
CUI: C0025286
Disease: Meningioma
Meningioma
0.690 Biomarker disease BEFREE Patients with BAP1-negative rhabdoid meningiomas had reduced time to recurrence compared with patients with BAP1-retained rhabdoid meningiomas (Kaplan-Meier analysis, 26 mo vs 116 mo, P < .001; hazard ratio 12.89). 28170043 2017
CUI: C0025286
Disease: Meningioma
Meningioma
0.690 GeneticVariation disease BEFREE Because BAP1-mutant meningiomas are rare tumors, multi-institutional efforts will be needed to evaluate therapeutic strategies and to further define the clinicopathologic features of these tumors. 28482042 2017
CUI: C0025286
Disease: Meningioma
Meningioma
0.690 Biomarker disease CTD_human Inference on germline BAP1 mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high-risk area. 25231345 2015
CUI: C0025286
Disease: Meningioma
Meningioma
0.690 GeneticVariation disease BEFREE We report a high-risk cancer family with multiple mesotheliomas, cutaneous melanomas, basal cell carcinomas, and meningiomas segregating with a germline nonsense mutation in BAP1 (c.1938T>A; p.Y646X). 26409435 2015
CUI: C0025286
Disease: Meningioma
Meningioma
0.690 GeneticVariation disease BEFREE Inactivating germ line BRCA1-associated protein-1 (BAP1) mutations have recently been reported in families with uveal or cutaneous malignant melanoma (UMM, CMM), mesothelioma, and meningioma. 22889334 2012
CUI: C0025286
Disease: Meningioma
Meningioma
0.690 AlteredExpression disease BEFREE Biallelic inactivation of BAP1 and decreased BAP1 expression were identified in the UM, lung adenocarcinoma and meningioma tumours from three family members with this germline BAP1 mutation. 21941004 2011
CUI: C0025286
Disease: Meningioma
Meningioma
0.690 Biomarker disease HPO
CUI: C0025286
Disease: Meningioma
Meningioma
0.690 Biomarker disease GENOMICS_ENGLAND