BAP1: role in carcinogenesis and clinical implications

Daniel A. Kobrinski, Haining Yang, Muaiad Kittaneh

Abstract

BRCA-1 associated protein 1 (BAP1) is a tumor suppressor gene that has been implicated in the pathogenesis of several malignancies and is gaining more recognition as a crucial gene that could be amenable to therapeutic manipulation. There is a growing interest in prevention and establishing cancer screening guidelines in patients with germline BAP1 mutations to aid with early detection and treatment of associated malignancies. We aim to give a concise review of BAP1 and its role in carcinogenesis, the BAP1 cancer predisposition syndrome and discuss clinical implications including suggested screening guidelines, and potential targeted therapeutic options.