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Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11.
Koopmans, A E; Vaarwater, J; Paridaens, D; Naus, N C; Kilic, E; de Klein, A.
Afiliação
  • Koopmans AE; Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands. a.koopmans@erasmusmc.nl
Br J Cancer ; 109(2): 493-6, 2013 Jul 23.
Article em En | MEDLINE | ID: mdl-23778528
BACKGROUND: Mutations in GNAQ and GNA11, encoding the oncogenic G-protein alpha subunit q and 11, respectively, occur frequently in the majority of uveal melanomas. METHODS: 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. RESULTS: 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. CONCLUSION: GNAQ and GNA11 mutations are, in equal matter, not associated with patient outcome.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oncogenes / Neoplasias Uveais / Subunidades alfa de Proteínas de Ligação ao GTP / Melanoma / Mutação Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2013 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oncogenes / Neoplasias Uveais / Subunidades alfa de Proteínas de Ligação ao GTP / Melanoma / Mutação Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2013 Tipo de documento: Article