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402566 | New Interpretation | 01/22/2019 1:26 PM |
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The interpretation was not yet created, or had been deleted.After (Current Version)
Tier 2InterpretationB-RAF is a member of the RAF-family of kinases which plays an important role in the RAS-RAF-MEK-ERK mitotic signaling pathway. 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). It has been found that BRAF V600E has a mutation frequency of 2% in pancreatic cancer. A small study showed that no BRAF mutations were present in cases without KRAS mutations and in the few cases with BRAF mutations, a KRAS mutation was also present.
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Citations- Badalian-Very G, et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood 2010;116(11):1919-23
- Emile JF, et al. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease. Blood 2014;124(19):3016-9
- Go H, et al. Frequent detection of BRAF(V600E) mutations in histiocytic and dendritic cell neoplasms. Histopathology 2014;65(2):261-72
- Idbaih A, et al. Dramatic response of a BRAF V600E-mutated primary CNS histiocytic sarcoma to vemurafenib. Neurology 2014;83(16):1478-80
- Michonneau D, et al. BRAF(V600E) mutation in a histiocytic sarcoma arising from hairy cell leukemia. J Clin Oncol 2014;32(35):117-21
- Zehir A, et al. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Nat Med 2017; 23 (6): 703-713.
- Ishimura N, et al. BRAF and K-ras gene mutations in human pancreatic cancers. Cancer letters 2003; 199 (2): 169-173.
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Last updated: 2019-01-22 18:26:32 UTC
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