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Transcript
BAP1 Familial Tumor Predisposition Syndrome ⢠Inheritance of one non-functional allele â Germline mutations: 73% truncating, 22% missense (predicted pathogenic) â Tumor predisposition in 1st and 2nd degree relatives â Loss/mutation of 2nd allele in cancers ⢠High penetrance (up to 85%)/early onset (median age of diagnosis = 50) cancer risk â â â â â *Uveal melanoma Malignant mesothelioma *Cutaneous melanoma *Clear cell renal cell carcinoma *Meningioma ⢠⢠1972 case report of individual with meningioma, mesothelioma & uveal melanoma BAP1-deficient pedigree with at least 7 affected family members showing meningioma, uveal melanoma, mesothelioma, lung cancer and others . Two patients treated for uveal melanoma developed second malignancy. â Other cancers with lesser frequency; multiple neoplasms common â atypical Spitz tumors/nevoid melanoma-like melanoytic proliferations (NEMMPs) ⢠generally benign *poor prognosis
