Pakistan Journal of Biological Sciences1028-88801812-5735Asian Network for Scientific Information10.3923/pjbs.2014.565.569AslJavad Mohammadi AlmasiShekoufeh TabatabaiefarMohammad Amin 42014174Colorectal cancer (CRC) is one of the most common forms of cancer around the world. Sporadic CRCs are caused by accumulation of mutations in essential genes regulating normal proliferation and differentiation of cells. The proto-oncogene BRAF encoded by the BRAF gene is involved in the RAS/RAF/MAPK pathway of signal transduction during cell growth. Acquired mutations in BRAF have been found at high frequencies in adult patients with papillary thyroid carcinoma and sporadic CRC. One of the predominant hot spot point mutations is T1799A (V600E) mutation among a cohort of CRC patients from Ahvaz city, southwest Iran. The aim of this study was to estimate the frequency of V600E mutation in CRC patients from Ahvaz city, southwest Iran. We analyzed exon 15 of the BRAF gene in isolated DNA from 80 Formalin Fixed Paraffin-embedded (FFPE) CRC tumor tissues using PCR-RFLP method. Data were analyzed using SPSS statistical program. According to our results 37 out of 80 cases (46.25%) were heterozygous for the mutation while the remaining 43 cases (53.75%) had normal homozygous genotype. No homozygous mutant genotype was found. Based on our findings, the frequency of V600E mutation appears to be significantly increased among CRC patients of the studied population but there was no significant relationship between genotypes and age and sex. In conclusion, these findings might prove the effect of V600E mutation on CRC pathogenesis. However, the exact effect of the mutation in CRC progression requires further work.]]>Aaltonen, L.A., R. Salovaara, P. Kristo, F. Canzian and A. Hemminki et al.,199833814811487Benvenuti, S., A. Sartore-Bianchi, F.D. Nicolantonio, C. Zanon and M. Moroni et al.,20076726432648Cappuzzo, F., M.V. Garcia, G. Finocchiaro, M. Skokan and S. Gajapathy et al.,2008998399Center, M.M., A. Jemal, R.A. Smith and E. Ward,200959366378Chalya, P.L., M.D. McHembe, J.B. Mabula, P.F. Rambau and H. Jaka et al.,20132013Davies, H., G.R. Bignell, C. Cox, P. Stephens and S. Edkins et al.,2002417949954De Gramont, A., A. Figer, M. Seymour, M. Homerin and A. Hmissi et al.,20001829382947De Roock, W., B. Claes, D. Bernasconi, J. De Schutter and B. Biesmans et al.,2010KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: A retrospective consortium analysis.]]>11753762Deng, G., I. Bell, S. Crawley, J. Gum and J.P. Terdiman et al.,200410191195Di Nicolantonio, F., M. Martini, F. Molinari, A. Sartore-Bianchi and F. Arena et al.,200826457055712Ferlay, J., D.M. Parkin and E. Steliarova-Foucher,201046765781Jemal, A., F. Bray, M.M. Center, J. Ferlay, E. Ward and D. Forman,2011616990Jensen, L.H., J. Lindebjerg, L. Byriel, S. Kolvraa and D.G. Cruger,200810490497Kamangar, F., G.M. Dores and W.F. Anderson,20062421372150Kambara, T., L.A. Simms, V.L.J. Whitehall, K.J. Spring and C.V.A. Wynter et al.,2004BRAF mutation is associated with DNA methylation in serrated polyps and cancers of the colorectum.]]>5311371144Kane, M.F., M. Loda, G.M. Gaida, J. Lipman and R. Mishra et al.,199757808811Kerber, R.A., D.W. Neklason, W.S. Samowitz and R.W. Burt,2005Lynch syndrome) in a large population database.]]>4239244Laurent-Puig, P., A. Cayre, G. Manceau, E. Buc and J.B. Bachet et al.,20092759245930Loupakis, F., A. Ruzzo, C. Cremolini, B. Vincenzi and L. Salvatore et al.,2009101715721Meyerhardt, J.A. and R.J. Mayer,2005352476487Rachet, B., C. Maringe, U. Nur, M. Quaresma and A. Shah et al.,200910351369Rajagopalan, H., A. Bardelli, C. Lengauer, K.W. Kinzler, B. Vogelstein and V.E. Velculescu,2002RAF/RAS oncogenes and mismatch-repair status.]]>418934934Rasuck, C.G., S.M. Leite, F. Komatsuzaki, A.C. Ferreira, V.C. Oliveira and K.B. Gomes,20123925532560Sithanandam, G., T. Druck, L.A. Cannizzaro, G. Leuzzi, K. Huebner and U.R. Rapp,19927795799Sithanandam, G., W. Kolch, F.M. Duh and U.R. Rapp,1990517751780Takahashi, K., H. Eguchi, K. Arihiro, R. Ito and K. Koyama et al.,200746242248Vandrovcova, J., K. Lagerstedt-Robinsson, L. Pahlman and A. Lindblom,20061522702273Wang, L., J.M. Cunningham, J.L. Winters, J.C. Guenther and A.J. French et al.,2003BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair.]]>6352095212Woodman, C.B., A. Gibbs, N. Scott, N.Y. Haboubi and S. Collins,200185787790Yokota, T., T. Ura, N. Shibata, D. Takahari and K. Shitara et al.,2011BRAF mutation is a powerful prognostic factor in advanced and recurrent colorectal cancer.]]>104856862Yuen, S.T., H. Davies, T.L. Chan, J.W. Ho and G.R. Bignell et al.,2002BRAF and KRAS mutations in colorectal neoplasia.]]>6264516455