V600E

V600E is a mutation of the BRAF gene in which valine (V) is substituted by glutamic acid (E) at codon 600.[1][2] It is a driver mutation in a proportion of certain diagnoses, including melanoma,[3][4] hairy cell leukemia,[5][6] papillary thyroid carcinoma,[7][8] colorectal cancer,[9] non-small-cell lung cancer,[10][11] Langerhans cell histiocytosis,[12] and ameloblastoma.[13]

Clinical

Vemurafenib and dabrafenib are approved by the FDA for treatment of melanomas that express V600E.

References

  1. ↑ Davies H, Bignell GR, Cox C et al. (2002). "Mutations of the BRAF gene in human cancer". Nature. 417 (6892): 949–54. doi:10.1038/nature00766. PMID 12068308.
  2. ↑ Ritterhouse LL, Barletta JA (2015). "BRAF V600E mutation-specific antibody: A review". Semin Diagn Pathol. 32 (5): 400–8. doi:10.1053/j.semdp.2015.02.010. PMID 25744437.
  3. ↑ Maldonado JL, Fridlyand J, Patel H et al. (2003). "Determinants of BRAF mutations in primary melanomas". J. Natl. Cancer Inst. 95 (24): 1878–90. doi:10.1093/jnci/djg123. PMID 14679157.
  4. ↑ Maverakis E, Cornelius LA, Bowen GM et al. (2015). "Metastatic melanoma - a review of current and future treatment options". Acta Derm. Venereol. 95 (5): 516–24. doi:10.2340/00015555-2035. PMID 25520039.
  5. ↑ Tiacci E, Trifonov V, Schiavoni G et al. (2011). "BRAF mutations in hairy-cell leukemia". N. Engl. J. Med. 364 (24): 2305–15. doi:10.1056/NEJMoa1014209. PMC 3689585Freely accessible. PMID 21663470.
  6. ↑ Dietrich S, Zenz T (2015). "BRAF inhibitor therapy in HCL". Best Pract Res Clin Haematol. 28 (4): 246–52. doi:10.1016/j.beha.2015.10.001. PMID 26614903.
  7. ↑ Puxeddu E, Moretti S, Elisei R et al. (2004). "BRAF(V599E) mutation is the leading genetic event in adult sporadic papillary thyroid carcinomas". J. Clin. Endocrinol. Metab. 89 (5): 2414–20. doi:10.1210/jc.2003-031425. PMID 15126572.
  8. ↑ Elisei R, Ugolini C, Viola D et al. (2008). "BRAF(V600E) mutation and outcome of patients with papillary thyroid carcinoma: a 15-year median follow-up study". J. Clin. Endocrinol. Metab. 93 (10): 3943–9. doi:10.1210/jc.2008-0607. PMID 18682506.
  9. ↑ Li WQ, Kawakami K, Ruszkiewicz A et al. (2006). "BRAF mutations are associated with distinctive clinical, pathological and molecular features of colorectal cancer independently of microsatellite instability status". Mol. Cancer. 5: 2. doi:10.1186/1476-4598-5-2. PMC 1360090Freely accessible. PMID 16403224.
  10. ↑ Sánchez-Torres JM, Viteri S, Molina MA, Rosell R (2013). "BRAF mutant non-small cell lung cancer and treatment with BRAF inhibitors". Transl Lung Cancer Res. 2 (3): 244–50. doi:10.3978/j.issn.2218-6751.2013.04.01 (inactive 2016-05-28). PMC 4367599Freely accessible. PMID 25806238.
  11. ↑ Rothschild SI (2015). "Targeted Therapies in Non-Small Cell Lung Cancer-Beyond EGFR and ALK". Cancers (Basel). 7 (2): 930–49. doi:10.3390/cancers7020816. PMC 4491691Freely accessible. PMID 26018876.
  12. ↑ Badalian-Very G, Vergilio JA, Degar BA et al. (2012). "Recent advances in the understanding of Langerhans cell histiocytosis". Br. J. Haematol. 156 (2): 163–72. doi:10.1111/j.1365-2141.2011.08915.x. PMID 22017623.
  13. ↑ Kurppa KJ, Catón J, Morgan PR et al. (2014). "High frequency of BRAF V600E mutations in ameloblastoma". J. Pathol. 232 (5): 492–8. doi:10.1002/path.4317. PMC 4255689Freely accessible. PMID 24374844.


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