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BRAF
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Interpretation 368
Tier 1
BRAF
Variants
BRAF codon(s) 594 any
Primary Sites
Skin
Tumor Types
Melanoma
Interpretation

B-RAF is a member of the RAF-family of kinases which plays an important role in the RAS-RAF-MEK-ERK mitotic signaling pathway. BRAF mutations are present in approximately 50% to 60% of cutaneous melanomas and are also present at lower frequencies in other melanoma subtypes. A point mutation, D594G, is located in the kinase domain of BRAF. Mutations at residue D594 are believed to result in an impaired kinase activity. Correlation with other clinical and lab findings is necessary.

Citations
  1. Heidorn SJ, et al. Kinase-dead BRAF and oncogenic RAS cooperate to drive tumor progression through CRAF. Cell 2010;140(2):209-21
  2. Hodis E, et al. A landscape of driver mutations in melanoma. Cell 2012;150(2):251-63
  3. Hill VK, et al. The genetics of melanoma: recent advances. Annu Rev Genomics Hum Genet 2013;14():257-79
  4. Michaloglou C, et al. BRAF(E600) in benign and malignant human tumours. Oncogene 2008;27(7):877-95
  5. Fratev FF, et al. An in silico study of the molecular basis of B-RAF activation and conformational stability. BMC Struct Biol 2009;9():47
Last updated: 2017-01-20 03:45:28 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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