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BRAF
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Interpretation 290
Tier 1
BRAF
Variants
BRAF L597V
BRAF L597R
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, L597R, is located in the kinase domain of BRAF. A case report has shown that a metastatic melanoma with this mutation is sensitive to BRAF inhibitors. In addition, it has been suggested that BRAF L597 mutations could potentially be responsive to MEK inhibitors. Drug: Trametinib BGB659

Citations
  1. Bahadoran P, et al. Major clinical response to a BRAF inhibitor in a patient with a BRAF L597R-mutated melanoma. J Clin Oncol 2013;31(19):e324-6
  2. Dahlman KB, et al. BRAF(L597) mutations in melanoma are associated with sensitivity to MEK inhibitors. Cancer Discov 2012;2(9):791-7
  3. Salama AK, et al. BRAF in melanoma: current strategies and future directions. Clin Cancer Res 2013;19(16):4326-34
  4. Flaherty KT, et al. Improved survival with MEK inhibition in BRAF-mutated melanoma. N Engl J Med 2012;367(2):107-14
  5. Bowyer SE, et al. Activity of trametinib in K601E and L597Q BRAF mutation-positive metastatic melanoma. Melanoma Res 2014;24(5):504-8
  6. Yao Z, et al. BRAF Mutants Evade ERK-Dependent Feedback by Different Mechanisms that Determine Their Sensitivity to Pharmacologic Inhibition. Cancer Cell 2015;28(3):370-83
Last updated: 2018-04-06 15:07:07 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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