BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Disease: Adult Meningioma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		0.040 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: C0278877
Disease: Adult Meningioma
Adult Meningioma 		0.040 GeneticVariation disease BEFREE BAP1 mutations in high-grade meningioma: implications for patient care. 28482042 2017
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		0.040 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: C0278877
Disease: Adult Meningioma
Adult Meningioma 		0.040 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