Low incidence of BRAF and NRAS mutations in a population with a high incidence of melanoma

Virchows Arch. 2024 Mar;484(3):475-479. doi: 10.1007/s00428-023-03732-1. Epub 2024 Jan 6.

Abstract

Reported rates of BRAF mutation in Irish cutaneous melanoma cohorts are lower than the reported international data. We aimed to assess the mutational status of a cohort of primary cutaneous melanomas and to correlate it with clinical follow-up data.A total of 92 cases of primary cutaneous melanoma diagnosed at a single institution in 2012 were analyzed. Regions containing common mutations in the BRAF, NRAS, KIT, and KRAS genes were investigated by PCR amplification followed by Sanger sequencing. Demographic details, tumor characteristics, and 10-year outcome data were also obtained.Ten cases with BRAF V600E mutations (11.6%) and five (5.49%) NRAS mutations (4 at Q61R, 1 at Q61K) were detected. No statistically significant differences were noted between groups for age, gender, depth of invasion, nodal status, or recurrence status (p ≥ 0.05).These findings suggest that the Irish population has a markedly lower incidence of BRAF and NRAS mutations in melanoma than those reported in other cohorts.

Keywords: BRAF mutation; NRAS mutation; Melanoma.

MeSH terms

  • GTP Phosphohydrolases / genetics
  • Humans
  • Incidence
  • Melanoma* / pathology
  • Membrane Proteins / genetics
  • Mutation
  • Proto-Oncogene Proteins B-raf / genetics
  • Skin Neoplasms* / genetics
  • Skin Neoplasms* / pathology

Substances

  • Proto-Oncogene Proteins B-raf
  • GTP Phosphohydrolases
  • BRAF protein, human
  • NRAS protein, human
  • Membrane Proteins