بررسي فراواني جهش در اگزون 2 ژن BRCA1 در بيماران مبتلا به سرطان سينه و بستگان سالم آنان در اهواز

Prevalence of mutation in exon 2 of the BRCA1 gene among breast cancer patients and their healthy relatives in Ahwaz

Objective: Breast cancer is the most common cancer affecting women and 1: 12 of the population will develop breast cancer before the age of 70. Of those, 5 to 10 % of these cases develop breast cancer due to autosomal dominant predisposing gene mutation at BRCA1 and BRCA2. The aim of this study was to assess the prevalence of these mutations among breast cancer patients and their relatives in Ahwaz. Subjects and Methods: For this purpose, 38 and 32 blood samples from breast cancer patients and their healthy relatives respectively were tested for possible presence of mutation in exon 3 of the BRCA 1 gene using single strand conformational analysis method. Results: the results showed that 10.5% of the patients with breast cancer carried the mutated gene. Conclusion: These results demonstrated that the prevalence of BRCA 1 gene mutation in our area is similar to its global pattern.