BAP1 tumour predisposition syndrome
Autoszomális domináns
BAP1 variants that increase the risk of uveal and cutaneous melanoma, mesothelioma, renal cell carcinoma and other tumours.
Mit változtat a diagnózis
Annual eye, skin and kidney checks are recommended, along with avoiding asbestos exposure; relatives can be offered testing.
Vizsgált gének
Más néven
BAP1 tumor predisposition syndrome; TPDS; tumor predisposition syndrome; tumor susceptibility linked to germline BAP1 mutations; tumour predisposition syndrome; tumour susceptibility linked to germline BAP1 mutations
