BRAF V600E mutation

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BRAF V600E positivity in malignant melanoma. VE1 immunostain.

The BRAF V600E mutation, also BRAF V600E, is a common recurrent mutation in the BRAF gene that is seen in many types of tumours and cancer.[1]

A more general discussion about BRAF is in BRAF mutation.


The BRAF gene, formally known as v-RAF murine sarcoma viral oncogene homolog B1, is a serine threonine kinase.[2]

The mutation can be demonstrated with molecular testing (ARMS). Also, a mutation specific immunostain (VE1) is available.[1]


Commonly mutated

Less commonly mutated

See also


  1. 1.0 1.1 Capper, D.; Preusser, M.; Habel, A.; Sahm, F.; Ackermann, U.; Schindler, G.; Pusch, S.; Mechtersheimer, G. et al. (Jul 2011). "Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody.". Acta Neuropathol 122 (1): 11-9. doi:10.1007/s00401-011-0841-z. PMID 21638088.
  2. Online 'Mendelian Inheritance in Man' (OMIM) 164757
  3. 3.0 3.1 3.2 Capper, D.; Berghoff, AS.; Magerle, M.; Ilhan, A.; Wöhrer, A.; Hackl, M.; Pichler, J.; Pusch, S. et al. (Feb 2012). "Immunohistochemical testing of BRAF V600E status in 1,120 tumor tissue samples of patients with brain metastases.". Acta Neuropathol 123 (2): 223-33. doi:10.1007/s00401-011-0887-y. PMID 22012135.
  4. Ilie, MI.; Lassalle, S.; Long-Mira, E.; Bonnetaud, C.; Bordone, O.; Lespinet, V.; Lamy, A.; Sabourin, JC. et al. (May 2014). "Diagnostic value of immunohistochemistry for the detection of the BRAF(V600E) mutation in papillary thyroid carcinoma: comparative analysis with three DNA-based assays.". Thyroid 24 (5): 858-66. doi:10.1089/thy.2013.0302. PMID 24417277.
  5. Koelsche, C.; Wöhrer, A.; Jeibmann, A.; Schittenhelm, J.; Schindler, G.; Preusser, M.; Lasitschka, F.; von Deimling, A. et al. (Jun 2013). "Mutant BRAF V600E protein in ganglioglioma is predominantly expressed by neuronal tumor cells.". Acta Neuropathol 125 (6): 891-900. doi:10.1007/s00401-013-1100-2. PMID 23435618.
  6. Koelsche, C.; Sahm, F.; Wöhrer, A.; Jeibmann, A.; Schittenhelm, J.; Kohlhof, P.; Preusser, M.; Romeike, B. et al. (Apr 2014). "BRAF-mutated pleomorphic xanthoastrocytoma is associated with temporal location, reticulin fiber deposition and CD34 expression.". Brain Pathol 24 (3): 221-9. doi:10.1111/bpa.12111. PMID 24345274.
  7. Choueiri, TK.; Cheville, J.; Palescandolo, E.; Fay, AP.; Kantoff, PW.; Atkins, MB.; McKenney, JK.; Brown, V. et al. (Nov 2012). "BRAF mutations in metanephric adenoma of the kidney.". Eur Urol 62 (5): 917-22. doi:10.1016/j.eururo.2012.05.051. PMID 22727996.
  8. Udager, AM.; Pan, J.; Magers, MJ.; Palapattu, GS.; Morgan, TM.; Montgomery, JS.; Weizer, AZ.; Hafez, KS. et al. (Apr 2015). "Molecular and immunohistochemical characterization reveals novel BRAF mutations in metanephric adenoma.". Am J Surg Pathol 39 (4): 549-57. doi:10.1097/PAS.0000000000000377. PMID 25602792.
  9. Zaanan A, Bachet JB, André T, Sinicrope FA (September 2014). "Prognostic Impact of Deficient DNA Mismatch Repair and Mutations in KRAS, and BRAFV600E in Patients with Lymph Node-Positive Colon Cancer". Curr Colorectal Cancer Rep 10 (3): 346–353. doi:10.1007/s11888-014-0237-2. PMC 4224319. PMID 25386108.
  10. Ilie, M.; Long, E.; Hofman, V.; Dadone, B.; Marquette, CH.; Mouroux, J.; Vignaud, JM.; Begueret, H. et al. (Mar 2013). "Diagnostic value of immunohistochemistry for the detection of the BRAFV600E mutation in primary lung adenocarcinoma Caucasian patients.". Ann Oncol 24 (3): 742-8. doi:10.1093/annonc/mds534. PMID 23131393.
  11. Chui MH, Shih IM (February 2020). "Oncogenic BRAF and KRAS mutations in endosalpingiosis". J Pathol 250 (2): 148–158. doi:10.1002/path.5353. PMID 31576556.