Knowledge Bank

BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a recently identified hereditary cancer syndrome and a rapidly developing area of medical research. Germline mutations in this tumor suppressor gene predispose families to the development of various malignancies. The molecular functions of the gene as well as the clinical phenotype of the syndrome are still being clarified. The aim of this study is to conduct a comprehensive review of all published research into BAP1-TPDS to more thoroughly delineate the clinical implications of germline BAP1 mutations. Current evidence suggests that germline BAP1 mutations predispose families to uveal melanoma, malignant mesothelioma, cutaneous melanoma, renal cell carcinoma, characteristic benign skin lesions, and possibly a range of other cancers as well. Some of these cancers tend to be more aggressive, have a propensity to metastasize, and onset earlier in life in patients with BAP1 mutations. Survival in these patients is significantly decreased. Although further research is necessary, this information can aid in the management, diagnoses, prognoses, and therapy of these patients and their families, and highlights the importance of genetic counseling.