http://www.ncbi.nlm.nih.gov/pubmed/23550303

Nat Rev Cancer. 2013 Mar;13(3):153-9.

BAP1 and cancer.

Carbone M, Yang H, Pass HI, Krausz T, Testa JR, Gaudino G.

Source

University of Hawaii Cancer Center, BSB200, 701 Ilalo Street, Honolulu, Hawaii 96813, USA. mcarbone@cc.hawaii.edu

Abstract

BAP1 is a deubiquitylase that is found associated with multiprotein complexes that regulate key cellular pathways, including the cell cycle, cellular differentiation, cell death, gluconeogenesis and the DNA damage response (DDR). Recent findings indicate that germline BAP1 mutations cause a novel cancer syndrome that is characterized, at least in the affected families that have been studied so far, by the onset at an early age of benign melanocytic skin tumours with mutated BAP1, and later in life by a high incidence of mesothelioma, uveal melanoma, cutaneous melanoma and possibly additional cancers.