Ewens KG, Lalonde E, Richards-Yutz J, Shields CL, Ganguly A. Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma.BMC Cancer. 2018;18(1):1172. Published 2018 Nov 26. doi:10.1186/s12885-018-5079-x Harbour JW, Onken MD, Roberson ED, et al. Fre...
23.Shankar GM, Santagata S. BAP1 mutations in high-grade meningioma: implications for patient care. Neuro Oncol 2017;19:1447-1456. 24.Abdel-Rahman MH, Pilarski R, Cebulla CM, et al. Germline BAP1 mutation predisposes to uveal m...
They occur sporadically or, less common, in the setting of BAP1 tumor predisposition syndrome caused by a BAP1 germline mutation that predisposes to several malignancies including cutaneous and uveal melanoma. To date, only few cases of BAP1-inactivated melanomas have been reported. We present a...
transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma....
(MBAITs), are intradermal melanocytic lesions with onset in the second decade of life. Histologically, these lesions share features with atypical Spitz nevi and are notable for loss ofBAP1expression. Patients are also at risk for cutaneous and uveal melanoma. Despite minimal asbestos exposure, ...
transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma....
BAP1 is located on chromosome 3p21 in a region frequently altered in various cancers, such as mesothelioma and uveal melanoma (13, 14), suggesting that BAP1 is a tumor suppressor. Interestingly, an increasing number of studies have demonstrated that depletion of BAP1 inhibits the proliferation ...
Mutations in the BAP1 gene commonly result in a number of aggressive cancers; predominantly uveal melanoma, malignant mesothelioma, renal cell carcinoma, and cutaneous melanoma. Importantly, germline mutations in the BAP1 gene have been established as a novel tumor predisposition syndrome, conferring ...
Lack of BAP1 protein expression in uveal melanoma is associated with increased metastatic risk and has utility in routine prognostic testing. Br J Cancer 2014;111(7):1373-1380.Kalirai H, Dodson A, Faqir S, Damato BE, Coupland SE. Lack of BAP1 protein expression in uveal ...
Cancer cell metabolism is a targetable vulnerability; however, a precise understanding of metabolic heterogeneity is required. Inactivating mutations in BRCA1-associated protein 1 (BAP1) are associated with metastasis in uveal melanoma (UM), the deadlies