Related Experiment Video

Updated: Jul 4, 2025

Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods
07:49

Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods

Published on: July 17, 2019

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The Clinical, Genomic, and Transcriptomic Landscape of BRAF Mutant Cancers

Suzanne Kazandjian1,2, Emmanuelle Rousselle3,4, Matthew Dankner3,4,5,6

  • 1Gerald Bronfman Department of Oncology, McGill University, Montreal, QC H4A 3T2, Canada.

Cancers
|January 26, 2024
PubMed
Abstract

Insights

BRAF mutation class varies by patient demographics and tumor type. Non-V600 BRAF mutations are more common in Black males and older individuals, suggesting distinct therapeutic strategies are needed.

Area of Science:

  • Oncology
  • Genomics
  • Cancer Research

Background:

  • BRAF mutations are classified into four groups; Class 1 (V600) mutations are targetable, unlike Class 2/3 or BRAF Fusions.
  • Understanding BRAF mutation class distribution is crucial for developing effective cancer treatments.

Purpose of the Study:

  • To investigate the differences in BRAF mutation class based on clinical, genomic, and transcriptomic variables in cancer patients.
  • To identify patient populations and tumor types associated with specific BRAF mutation classes.

Main Methods:

  • Analysis of BRAF mutation class distribution across adult cancer patients using the AACR GENIE (v.12) database.
  • Examination of genomic alterations and transcriptomic data from The Cancer Genome Atlas.

Main Results:

  • BRAF mutations occurred in 6.2% of 153,834 samples; melanoma, CRC, and NSCLC were most frequent.
  • Class 1 mutations showed co-mutations outside the MAPK pathway, while Class 2/3 mutations involved RAS/NF1.
  • Class 2/3 mutations were enriched in UV response and WNT/β-catenin pathways; non-V600 mutations were more prevalent in Black males and older patients, with exceptions in CRC.

Conclusions:

  • Class 2/3 BRAF mutations, often found in Black male patients with co-mutations, may require additional oncogenic drivers.
  • Targeted therapies for non-V600 BRAF mutations necessitate improved access to next-generation sequencing (NGS) and clinical trial enrollment.
Keywords:
BRAF mutationMAPK pathwaycolorectal cancermelanomanon-small cell lung cancer

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