title: Incidence of BRAF p.Val600Glu and p.Val600Lys mutations in a consecutive series of 183 metastatic melanoma patients from a high incidence region.
abstract: OBJECTIVE
  Approximately 40-60% of melanomas from Caucasian populations carry activating mutations in the BRAF oncogene, with the most common being the p.Val600Glu (V600E) hotspot mutation in exon 15. The aim of the present study was to investigate the frequency of the less common p.Val600Lys (V600K) mutation in metastatic melanoma from a high incidence region.
  
  
  METHODS
  Dideoxy sequencing and fluorescent single strand conformation analysis were used to screen for mutations in exon 15 of BRAF in 183 cases of metastatic melanoma.
  
  
  RESULTS
  The overall incidence of BRAF mutation (89/183, 49%) was very similar to other large studies of Caucasian populations. However, the frequency of the p.Val600Lys mutation was higher than in most other studies and comprised almost one-third of all BRAF mutations in our cohort (27/89, 30%).
  
  
  CONCLUSIONS
  BRAF p.Val600Lys mutations were present at a relatively high frequency in this cohort of metastatic melanoma patients (27/183, 15%). Assays used to screen for BRAF mutations in the clinic should be robust enough to detect the p.Val600Lys mutation, as this may have therapeutic implications.
authors.affiliation: Anatomical Pathology, Pathwest, Sir Charles Gairdner Hospital, Nedlands, Australia.
authors.forename: Benhur
authors.initials: B
authors.lastname: Amanuel
authors.forename: Fabienne
authors.initials: F
authors.lastname: Grieu
authors.forename: Jasreen
authors.initials: J
authors.lastname: Kular
authors.forename: Michael
authors.initials: M
authors.lastname: Millward
authors.forename: Barry
authors.initials: B
authors.lastname: Iacopetta
mesh_terms: D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D019353:Endemic Diseases; D005260:Female; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000556:secondary; D008875:Middle Aged; D009362:Neoplasm Metastasis; D017354:Point Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D004273:DNA, Neoplasm; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf