Wikipedia

V600E

V600E er en mutasjon på BRAF-genet hvor valin (V) er byttet ut med glutamin (E) i kodon 600.[1][2] Mutasjonen spiller en betydelig rolle i visse diagnoser, inkludert malignt melanom,[3][4] hårcelleleukemi,[5][6] papillær tyroid kreft,[7][8] kolorektal kreft,[9] ikke-småcellet lungekreft,[10][11] Langerhans-celle histiocytose,[12] og ameloblastom.[13]

Klinisk rediger

Vemurafenib og dabrafenib er godkjent av FDA for behandling av føflekkreft som har mutasjon i V600E.

Referanser rediger

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