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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doi.org/10.1038/sj.bjc.6605226, hdl.handle.net/1765/17541
British Journal of Cancer
Erasmus MC: University Medical Center Rotterdam

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