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BAP1 and cancer

2013; Nature Portfolio; Volume: 13; Issue: 3 Linguagem: Inglês

10.1038/nrc3459

1474-1768

Michele Carbone, Haining Yang, Harvey I. Pass, Thomas Krausz, Joseph R. Testa, Giovanni Gaudino,

Ubiquitin and proteasome pathways

BAP1 is a deubiquitylase that is associated with multiprotein complexes that regulate key cellular pathways. Recent findings have indicated that germlineBAP1mutations might cause a novel cancer syndrome. Michele Carbone and colleagues discuss the evidence for this. 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.