title: Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours.
abstract: GTPase Activating Protein (GAP) is involved in down-regulating normal ras proteins and in the signal transduction pathway of some growth factors. We have screened 188 human tumours for mutations in the catalytic domain and at the C terminal SH2 region GAP. Three nonsense mutations in basal cell carcinomas were detected in the SH2 region and no mutations could be demonstrated in the catalytic domain. We conclude that mutations in the SH2 region of GAP may play a role in tumorigenesis and that inactivating mutations of the GAP catalytic domain do not contribute to tumour development.
authors.affiliation: Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
authors.forename: E
authors.initials: E
authors.lastname: Friedman
authors.forename: P V
authors.initials: PV
authors.lastname: Gejman
authors.forename: G A
authors.initials: GA
authors.lastname: Martin
authors.forename: F
authors.initials: F
authors.lastname: McCormick
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D001665:Binding Sites; D002384:Catalysis; D017931:DNA Primers; D004273:DNA, Neoplasm; D020690:GTPase-Activating Proteins; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009369:Neoplasms / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D020703:ras GTPase-Activating Proteins
chemical_list: D017931:DNA Primers; D004273:DNA, Neoplasm; D020690:GTPase-Activating Proteins; D011506:Proteins; D020703:ras GTPase-Activating Proteins