BAP1 mutations in mesothelioma: advances and controversies

Malignant mesothelioma (MM) is a fatal cancer of the pleural and peritoneal cavities caused predominantly by exposure to asbestos. Cohort studies suggest a genetic component to MM susceptibility. BAP1 is a tumour suppressor gene located at 3p21 and is one of the most commonly somatically lost or mutated genes in MM, occurring in approximately 40–60 % of tumours. Germline mutations in BAP1 appear to increase susceptibility to asbestos-induced MM. However, the frequency of germline BAP1 mutation is rare, not being observed in over 300 sporadic MM cases. Germline BAP1 mutation is characteristic of a heritable cancer predisposing syndrome with affected individuals developing malignancies such as MM, uveal and cutaneous melanoma at relatively high frequency. Here, we review the current research into BAP1 mutations in MM.