title: Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11.
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.
  
  
  CONCLUSIONS
  GNAQ and GNA11 mutations are, in equal matter, not associated with patient outcome.
authors.affiliation: Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands. a.koopmans@erasmusmc.nl
authors.forename: A E
authors.initials: AE
authors.lastname: Koopmans
authors.forename: J
authors.initials: J
authors.lastname: Vaarwater
authors.forename: D
authors.initials: D
authors.lastname: Paridaens
authors.forename: N C
authors.initials: NC
authors.lastname: Naus
authors.forename: E
authors.initials: E
authors.lastname: Kilic
authors.forename: A
authors.initials: A
authors.lastname: de Klein
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D005260:Female; D044385:GTP-Binding Protein alpha Subunits / Q000235:genetics* / Q000502:physiology; D043802:GTP-Binding Protein alpha Subunits, Gq-G11; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000401:mortality*; D008875:Middle Aged; D009154:Mutation / Q000502:physiology*; D009857:Oncogenes; D016019:Survival Analysis; D014604:Uveal Neoplasms / Q000235:genetics* / Q000401:mortality*; D055815:Young Adult; D000098943:Uveal Melanoma
chemical_list: C554062:GNA11 protein, human; C554061:GNAQ protein, human; D044385:GTP-Binding Protein alpha Subunits; D043802:GTP-Binding Protein alpha Subunits, Gq-G11