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Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11.

ABSTRACT: Mutations in GNAQ and GNA11, encoding the oncogenic G-protein alpha subunit q and 11, respectively, occur frequently in the majority of uveal melanomas.Exons 4 and 5 from GNAQ and GNA11 were amplified and sequenced from 92 ciliary body and choroidal melanomas. The mutation status was correlated with disease-free survival (DFS) and other parameters.None of the tumours harboured a GNAQ exon 4 mutation. A GNAQ mutation in exon 5 codon 209 was found in 46 out of 92 (50.0%) of the tumours. Only 1 out of 92 (1.1%) melanomas showed a mutation in GNA11 exon 4 codon 183, whereas 39 out of 92 (42.4%) harboured a mutation in exon 5 of GNA11 codon 209. Six tumours did not show any mutations in exons 4 and 5 of these genes. Univariate analyses showed no correlation between DFS and the mutation status.GNAQ and GNA11 mutations are, in equal matter, not associated with patient outcome.

SUBMITTER: Koopmans AE

PROVIDER: S-EPMC3721402 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature

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Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11.

Koopmans A E AE Vaarwater J J Paridaens D D Naus N C NC Kilic E E de Klein A A

British journal of cancer 20130618 2

<h4>Background</h4>Mutations in GNAQ and GNA11, encoding the oncogenic G-protein alpha subunit q and 11, respectively, occur frequently in the majority of uveal melanomas.<h4>Methods</h4>Exons 4 and 5 from GNAQ and GNA11 were amplified and sequenced from 92 ciliary body and choroidal melanomas. The mutation status was correlated with disease-free survival (DFS) and other parameters.<h4>Results</h4>None of the tumours harboured a GNAQ exon 4 mutation. A GNAQ mutation in exon 5 codon 209 was found ...[more]

PMID: 23778528

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