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BRAF
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Interpretation 219
Tier 1
BRAF
Variants
BRAF V600E
BRAF codon(s) 600 any
Primary Sites
Bone
Lung
Bone Marrow
Lymph Node
Skin
Tumor Types
Langerhans Cell Histiocytosis
Histiocytic and Dendritic Cell Neoplasms
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. Mutations of B-RAF have been described in up to 40-70% of Langerhans cell histiocytosis and approximately 50% of Erdheim-Chester disease. The hotspot for mutations in BRAF is at codon Val600 and these are activating mutations. The most common activating mutation is p.Val600Glu(V600E). Various B-Raf inhibitors(Vemurafenib, Dabrafenib) have been FDA approved for therapy for some tumor types in certain settings, and clinical trials for advanced BRAF V600 mutation-positive tumors using targeted therapy (often in combination with other therapy) may be available (clinical trials.gov).

Citations
  1. Badalian-Very G, et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood 2010;116(11):1919-23
  2. Emile JF, et al. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease. Blood 2014;124(19):3016-9
  3. Go H, et al. Frequent detection of BRAF(V600E) mutations in histiocytic and dendritic cell neoplasms. Histopathology 2014;65(2):261-72
  4. Idbaih A, et al. Dramatic response of a BRAF V600E-mutated primary CNS histiocytic sarcoma to vemurafenib. Neurology 2014;83(16):1478-80
  5. Michonneau D, et al. BRAF(V600E) mutation in a histiocytic sarcoma arising from hairy cell leukemia. J Clin Oncol 2014;32(35):e117-21
Last updated: 2018-11-12 20:40:44 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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