title: Mutational profile of GNAQQ209 in human tumors.
abstract: BACKGROUND
  Frequent somatic mutations have recently been identified in the ras-like domain of the heterotrimeric G protein alpha-subunit (GNAQ) in blue naevi 83%, malignant blue naevi (50%) and ocular melanoma of the uvea (46%). The mutations exclusively affect codon 209 and result in GNAQ constitutive activation which, in turn, acts as a dominant oncogene.
  
  
  METHODS
  To assess if the mutations are present in other tumor types we performed a systematic mutational profile of the GNAQ exon 5 in a panel of 922 neoplasms, including glioblastoma, gastrointestinal stromal tumors (GIST), acute myeloid leukemia (AML), blue naevi, skin melanoma, bladder, breast, colorectal, lung, ovarian, pancreas, and thyroid carcinomas.
  
  
  RESULTS
  We detected the previously reported mutations in 6/13 (46%) blue naevi. Changes affecting Q209 were not found in any of the other tumors. Our data indicate that the occurrence of GNAQ mutations display a unique pattern being present in a subset of melanocytic tumors but not in malignancies of glial, epithelial and stromal origin analyzed in this study.
authors.affiliation: Laboratory of Molecular Genetics, Institute for Cancer Research and Treatment, University of Torino Medical School, University of Torino, Medical School Candiolo, Torino, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Lamba
authors.forename: Lara
authors.initials: L
authors.lastname: Felicioni
authors.forename: Fiamma
authors.initials: F
authors.lastname: Buttitta
authors.forename: Fonnet E
authors.initials: FE
authors.lastname: Bleeker
authors.forename: Sara
authors.initials: S
authors.lastname: Malatesta
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Corbo
authors.forename: Aldo
authors.initials: A
authors.lastname: Scarpa
authors.forename: Monica
authors.initials: M
authors.lastname: Rodolfo
authors.forename: Margaret
authors.initials: M
authors.lastname: Knowles
authors.forename: Milo
authors.initials: M
authors.lastname: Frattini
authors.forename: Antonio
authors.initials: A
authors.lastname: Marchetti
authors.forename: Alberto
authors.initials: A
authors.lastname: Bardelli
mesh_terms: D020962:Heterotrimeric GTP-Binding Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000145:classification / Q000235:genetics*
chemical_list: D020962:Heterotrimeric GTP-Binding Proteins