High frequency of BRAF proto-oncogene hot spot mutation V600E in cohort of colorectal cancer patients from Ahvaz City, southwest Iran

Colorectal 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...

Full description

Saved in:
Bibliographic Details
Published in:Pakistan journal of biological sciences 2014-04, Vol.17 (4), p.565-569
Main Authors: Asl, Javad Mohammadi, Almasi, Shekoufeh, Tabatabaiefar, Mohammad Amin
Format: Article
Language:English
Subjects:
Adult
Colorectal Neoplasms - enzymology
Colorectal Neoplasms - epidemiology
Colorectal Neoplasms - genetics
DNA Mutational Analysis
Exons
Female
Gene Frequency
Genetic Predisposition to Disease
Heterozygote
Homozygote
Humans
Iran - epidemiology
Male
Middle Aged
Mutation
Proto-Oncogene Proteins B-raf - genetics
Risk Assessment
Risk Factors
Urban Health
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Colorectal 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.
ISSN:1028-8880
1812-5735
DOI:10.3923/pjbs.2014.565.569