Background: Recently, oncogenic G protein alpha subunit q (GNAQ) mutations have been described in about 50% of uveal melanomas and in the blue nevi of the skin.Methods:GNAQ exon 5 was amplified from 75 ciliary body and choroidal melanoma DNAs and sequenced directly. GNAQ mutation status was correlated with disease-free survival (DFS), as well as other clinical and histopathological factors, and with chromosomal variations detected by FISH and CGH.Results:Of the 75 tumour DNA samples analysed, 40 (53.3%) harboured oncogenic mutations in GNAQ codon 209. Univariate and multivariate analysis showed that GNAQ mutation status was not significantly correlated with DFS.Conclusion:The GNAQ mutation status is not suitable to predict DFS. However, the high frequency of GNAQ mutations may render it a promising target for therapeutic intervention.

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Keywords DNA determination, DNA sequence, Oncogenic mutation, Survival, Uveal melanoma, adult, aged, article, cancer survival, choroid melanoma, chromosome 3, chromosome 8q, chromosome variant, ciliary body tumor, codon, comparative genomic hybridization, controlled study, correlational study, disease free survival, exon, female, fluorescence in situ hybridization, gene amplification, gene mutation, guanine nucleotide binding protein alpha subunit, guanine nucleotide binding protein alpha subunit Q, histopathology, human, human tissue, male, prediction, priority journal, tumor volume, unclassified drug
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Journal British Journal of Cancer
Bauer, J, Kiliç, E, Vaarwater, J, Bastian, B.C, Garbe, C, & de Klein, J.E.M.M. (2009). Oncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma. British Journal of Cancer, 101(5), 813–815. doi:10.1038/sj.bjc.6605226