Prevalence of Mutation in Brca1 Gene, Exons-2, 3, 5, 11 and Exons-20 in Breast Cancer for Early-Onset Detection in Tehran City



Kiarad K¹ ; Ahmadi AR² ; Hashemi M¹ ; Lobat G³ ; Kholousi Adab F⁴
Source: Journal of Pharmaceutical Sciences and Research Published:2017

Abstract

Breast cancer is the most common cancer among women, accounting for more than 30% of all cancers in world wide. The incidence rate among women younger than 25 and older than 79 is 1/20,000 and 1/9, respectively. Breast cancer caused by a mutation in BRCA1 gene has a higher incidence, higher mitotic rate, and more lymphatic penetrance than sporadic breast cancer.). The purpose of present study is to investigate genetic mutations in Exons 2, 3, 50, 11 and 20 of BRCA1 gene and also the distribution of these mutations and the relationship between BRCA1 gene mutations with the prevalence rate of inherited breast cancer in the blood samples of women suspected of breast cancer in Tehran city. After the breast cancer genes BRCA1 were identified and genetic mutations in Exons 2, 3, 50, 11 and 20 of BRCA1 gene were investigated. The distribution of these mutations and the relationship between exons 2, 3, 50, 11 and 20 of BRCA1 gene mutations with the prevalence rate of inherited breast cancer in the blood samples of women suspected of breast cancer in Tehran city evaluated. Results of pathological of the breast cancer patients showed that 37 women (57%) were suffering from invasive cancer with ductal origin, 31 women (31%) were suffering from invasive cancer with milk cells origin, 5 women (5%) were suffering from in situ carcinoma with lobular origin, 7 women (7%) were suffering from in situ carcinoma with ductal origin. Among different exons of BRCA1 causing breast cancer that studied in this research, the changes in exons 2 and 3 had the highest distribution and exons 20 and 5 had the least distribution. © 2017, Pharmainfo Publications. All rights reserved.