BAP1-Related Tumor Predisposition Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant inherited tumor predisposition syndrome caused by germline mutations in the BAP1 gene. Carriers are at an increased risk of developing various neoplasms including BAP1-inactivated melanocytoma, cutaneous melanoma, uveal melanoma, basal cell carcinoma, malignant mesothelioma, and clear cell renal cell carcinoma.

**Synonyms:** - BAP1 Tumor Predisposition Syndrome - BAP1 Tumor Predisposition Syndrome - BAP1 Tumor Predisposition Syndrome - BAP1-TPDS