Mutational profile of GNAQQ209 in human tumors

Simona Lamba, Lara Felicioni, Fiamma Buttitta, Fonnet E. Bleeker, Sara Malatesta, Vincenzo Corbo, Aldo Scarpa, Monica Rodolfo, Margaret Knowles, Milo Frattini, Antonio Marchetti, Alberto Bardelli

Research output: Contribution to journalArticlepeer-review


Background: Frequent somatic mutations have recently been identified in the ras-like domain of the heterotrimeric G protein α-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. Methodology: 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. Principal Findings: 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.

Original languageEnglish
Article numbere6833
JournalPLoS One
Issue number8
Publication statusPublished - Aug 31 2009

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)


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