BAP1 and cancer

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

Research output: Contribution to journalArticlepeer-review

524 Scopus citations

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.

Original languageEnglish
Pages (from-to)153-159
Number of pages7
JournalNature Reviews Cancer
Volume13
Issue number3
DOIs
StatePublished - Mar 2013

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