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Carbone M , Yang HN , Pass HI , Krausz T , Testa JR , Gaudino G
BAP1 and cancer
Nature Reviews Cancer. 2013 Mar;13(3) :153-159
PMID: WOS:000315662700010 PMCID: PMC 3792854
AbstractBAP1 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.
NotesTimes Cited: 0 Carbone, Michele Yang, Haining Pass, Harvey I. Krausz, Thomas Testa, Joseph R. Gaudino, Giovanni