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Mutations of the BRAF gene in human cancer

Helen Davies1, Graham R Bignell, Charles Cox

  • 1Cancer Genome Project, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK.

Nature
|June 18, 2002
PubMed

Insights

BRAF mutations are common in melanoma and other cancers. These BRAF gene mutations lead to increased kinase activity, driving cancer cell growth and suggesting new therapeutic targets for melanoma.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Cancer develops from accumulated gene mutations affecting cell growth and death.
  • Signaling pathways with mutated genes in human cancers are prioritized for study.
  • The RAS RAF MEK ERK MAP kinase pathway regulates cellular responses to growth signals.

Purpose of the Study:

  • To identify genes within signaling pathways mutated in human cancers.
  • To investigate the frequency and impact of BRAF mutations in various cancers, particularly melanoma.

Main Methods:

  • Systematic genome-wide screening of signaling pathways.
  • Analysis of BRAF gene mutations in human cancer samples.
  • Functional studies of mutated BRAF proteins in cell lines.

Main Results:

  • BRAF somatic missense mutations found in 66% of malignant melanomas.
  • Mutations predominantly located in the kinase domain, with V599E being the most common (80%).
  • Mutated BRAF proteins exhibit increased kinase activity and transforming potential, independent of RAS signaling.

Conclusions:

  • BRAF is frequently activated by somatic point mutations in human cancers.
  • Activated BRAF kinase presents potential therapeutic targets for malignant melanoma and other cancers.

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