Mutational profile of GNAQQ209 in human tumors.
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.
Lamba
Simona
S
Laboratory of Molecular Genetics, Institute for Cancer Research and Treatment, University of Torino Medical School, University of Torino, Medical School Candiolo, Torino, Italy.
Felicioni
Lara
L
Buttitta
Fiamma
F
Bleeker
Fonnet E
FE
Malatesta
Sara
S
Corbo
Vincenzo
V
Scarpa
Aldo
A
Rodolfo
Monica
M
Knowles
Margaret
M
Frattini
Milo
M
Marchetti
Antonio
A
Bardelli
Alberto
A
D020962:Heterotrimeric GTP-Binding Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000145:classification / Q000235:genetics*
D020962:Heterotrimeric GTP-Binding Proteins