title: BAP1 and cancer.
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.
authors.affiliation: University of Hawaii Cancer Center, BSB200, 701 Ilalo Street, Honolulu, Hawaii 96813, USA. mcarbone@cc.hawaii.edu
authors.forename: Michele
authors.initials: M
authors.lastname: Carbone
authors.forename: Haining
authors.initials: H
authors.lastname: Yang
authors.forename: Harvey I
authors.initials: HI
authors.lastname: Pass
authors.forename: Thomas
authors.initials: T
authors.lastname: Krausz
authors.forename: Joseph R
authors.initials: JR
authors.lastname: Testa
authors.forename: Giovanni
authors.initials: G
authors.lastname: Gaudino
mesh_terms: D018095:Germ-Line Mutation; D006801:Humans; D009369:Neoplasms / Q000235:genetics*; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D043222:Ubiquitin Thiolesterase / Q000235:genetics*
chemical_list: C400134:BAP1 protein, human; D025521:Tumor Suppressor Proteins; D043222:Ubiquitin Thiolesterase
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