Evaluation of BRAF-V600E gene mutation in colon tissue of patients with colorectal cancer in Iran

Colorectal cancer is one of the most common types of cancer and the cause of death of a large number of patients and requires investigating the causes of the disease and adopting targeted therapies. Considering the diagnostic, therapeutic, and prognostic significance of genetic markers, in the present study BRAF-V600E gene mutation was evaluated in tissue samples of colorectal cancer patients in Iran.

In this study, 43 paraffin samples of colonic tissue were collected from patients with colorectal cancer and 5 tumor margin samples were collected as control. DNA was extracted after determining the percentage of tumor cells. BRAF-V600E mutation was evaluated using specific primers for mutant and normal alleles by Allele-specific PCR and also sequencing was done on samples with mutations.

Mean age of the patients was 53.5 years (minimum 20 and maximum 81 years) and BRAF-V600E mutation was detected in 4 samples (9.3%). Sequencing was performed on samples in which the BRAF-V600E mutation was detected. Comparison of PCR results with sequencing also showed 100% agreement. In 69.77% of the samples, the tumor percentage was equal to or more than 50% and in 30.23% of the samples, the tumor percentage was less than 50%.

Considering the diagnostic value of BRAF-V600E gene mutation in the development of treatment methods in patients with colorectal cancer, it seems that the evaluation of this mutation is a positive point in accelerating the recovery process and determining the prognosis and can be a suitable therapeutic target for patients with this mutation.