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BRAF
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Interpretation 106
Tier 2
BRAF
Variants
BRAF G464V
BRAF codon(s) 464 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in BRAF have been found in up to 10% of all NSCLC, more common in adenocarcinomas. The G464V mutation results in an amino acid substitution within the highly conserved motif of the kinase domain. This specific mutation is a low frequency cancer-associated variant classified as an intermediate activity mutant that moderately increases ERK activation and can transform cells. The predictive significance of this mutation needs further study. Clinical correlation is recommended.

Citations
  1. Davies H, et al. Mutations of the BRAF gene in human cancer. Nature 2002;417(6892):949-54
  2. Cancer Genome Atlas Research Network. Comprehensive molecular profiling of lung adenocarcinoma. Nature 2014;511(7511):543-50
  3. Cancer Genome Atlas Research Network. Comprehensive genomic characterization of squamous cell lung cancers. Nature 2012;489(7417):519-25
  4. Wan PT, et al. Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Cell 2004;116(6):855-67
  5. Zheng G, et al. Clinical detection and categorization of uncommon and concomitant mutations involving BRAF. BMC Cancer 2015;15():779
  6. Hey F, et al. A new mode of RAF autoregulation: a further complication in the inhibitor paradox. Cancer Cell 2013;23(5):561-3
Last updated: 2017-02-27 21:13:32 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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