Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 493-6 |
| Number of pages | 4 |
| Journal | British Journal of Cancer |
| Volume | 109 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 23 Jul 2013 |
Keywords
- Adult
- Aged
- Aged, 80 and over
- DNA Mutational Analysis
- Female
- GTP-Binding Protein alpha Subunits/genetics
- GTP-Binding Protein alpha Subunits, Gq-G11
- Humans
- Male
- Melanoma/genetics
- Middle Aged
- Mutation/physiology
- Oncogenes
- Survival Analysis
- Uveal Neoplasms/genetics
- Young Adult