BRAF V600E mutation

From Libre Pathology
Jump to navigation Jump to search
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. 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.
  10. 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.