Tumor predisposition syndrome

Tumor predisposition syndrome (TPDS) is conferring an increased risk of hereditary, early-onset cancers; predominantly uveal melanoma, malignant mesothelioma, renal cell carcinoma, and BAP1-inactivated melanocytic tumor (BIMT). Germline mutations in the BAP1 gene cause this syndrome. BAP1 is a ubiquitin carboxy-terminal hydrolase that regulate a number of processes including DNA damage repair, cell cycle control, chromatin modification, and the immune response. Recently, it has been reported that germline MBD4 deficiency also causes TPDS. MBD4 encodes a glycosylase involved in base-excision repair.