BAP1 tumour predisposition syndrome
Autozomálně dominantní
BAP1 variants that increase the risk of uveal and cutaneous melanoma, mesothelioma, renal cell carcinoma and other tumours.
Co se diagnózou změní
Annual eye, skin and kidney checks are recommended, along with avoiding asbestos exposure; relatives can be offered testing.
Analyzované geny
Známé také jako
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
