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BRAF
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Interpretation 2124
Tier 2
BRAF
Variants
BRAF V600E
Primary Sites
Kidney
Bladder
Ureter
Unknown
Tumor Types
Urothelial Carcinoma
Interpretation

BRAF is a member of the RAF-family of kinases which plays an important role in the RAS-RAF-MEK-ERK mitotic signaling pathway. BRAF V600E lies within the activation segment of the kinase domain of the BRAF protein and confers a gain of function. BRAF mutations are infrequent in urothelial carcinoma and are identified in 3-5% of cases. Various BRAF inhibitors (Vemurafenib, Dabrafenib) have been FDA approved for therapy for some tumor types in certain settings. The use of BRAF inhibitors in a number of other cancer types harboring BRAF V600E mutations are under investigation (clinicaltrials.gov). The clinicopathologic effects of BRAF in urothelial carcinoma remains to be fully elucidated.

Citations
  1. Wan PT, et al; Cancer Genome Project. Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Cell. 2004 Mar 19;116(6):855-67.
  2. Boulalas I, Zaravinos A, Delakas D, Spandidos DA. Mutational analysis of the BRAF gene in transitional cell carcinoma of the bladder. Int J Biol Markers. 2009 Jan-Mar;24(1):17-21.
  3. Sfakianos JP, et al. Genomic Characterization of Upper Tract Urothelial Carcinoma. Eur Urol. 2015 Dec;68(6):970-7.
  4. https://tcga-data.nci.nih.gov/docs/publications/tcga/?
Last updated: 2018-03-06 17:57:39 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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