Braf V600E mutation in melanoma: translational current scenario

Clin Transl Oncol. 2016 Sep;18(9):863-71. doi: 10.1007/s12094-015-1469-6. Epub 2016 Jan 29.

Abstract

Melanoma was one of the translational cancer examples in clinic, including target therapy related to specific biomarkers impacting in the outcome of melanoma patients. Melanomagenesis involved a wide variety of mutations during his evolution; many of these mutated proteins have a kinase activity. One of the most cited proteins in melanoma is BRAF (about 50-60 % of melanomas harbors activating BRAF mutations), for these the most common is a substitution of valine to glutamic acid at codon 600 (p.V600E). Therefore, the precise identification of this underlying somatic mutation is essential; knowing the translational implications has opened a wide view of melanoma biology and therapy.

Keywords: BRAF; Inhibitor resistance; Melanoma; V600E.

Publication types

  • Review

MeSH terms

  • Drug Resistance, Neoplasm / genetics
  • Humans
  • Melanoma / genetics*
  • Mutation
  • Proto-Oncogene Proteins B-raf / genetics*
  • Translational Research, Biomedical*

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf