Mutational profile of GNAQQ209 in human tumors

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 activat...

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Bibliographic Details
Published in:PloS one 2009-08, Vol.4 (8), p.e6833-e6833
Main Authors: Lamba, Simona, Felicioni, Lara, Buttitta, Fiamma, Bleeker, Fonnet E, Malatesta, Sara, Corbo, Vincenzo, Scarpa, Aldo, Rodolfo, Monica, Knowles, Margaret, Frattini, Milo, Marchetti, Antonio, Bardelli, Alberto
Format: Article
Language:English
Subjects:
Acute myeloid leukemia
Aging
Bladder
Brain cancer
Brain research
Deoxyribonucleic acid
DNA
Ethics
Gastrointestinal cancer
Genes
Genetic testing
Glioblastoma
Heterotrimeric GTP-Binding Proteins - genetics
Humans
Laboratories
Leukemia
Lungs
Medical research
Medical schools
Melanoma
Mutation
Myeloid leukemia
Neoplasms
Neoplasms - classification
Neoplasms - genetics
Oncology
Ovarian carcinoma
Pancreas
Pancreatic cancer
Pancreatic carcinoma
Pathology
Proteins
Signal transduction
Skin
Thyroid
Thyroid cancer
Thyroid carcinoma
Thyroid gland
Tumors
Urinary bladder
Uvea
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Summary: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. 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. 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.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0006833