The Study of BRCA1 and BRCA2 Gene Mutations in Benign and Malignant Lesions of the Breast

Abstract

Understanding the role of BRCA 1 and BRCA2 gene mutations is critical in the study of breast carcinogenesis. The aim was to study was to investigate BRCA | and BRCA2 gene mutations in benign and malignant lesions of the breast. A case-controlled retrospective study done with 10-formalin fixed and paraffin wax embedded tissue blocks retrieved from pathology archives (5 benign fibroadenoma and 5 malignant invasive ductal carcinoma) confirmed cases of the breast. BRCA | gene SNPs of fibroadenoma, indel was the most prevalent with 100% and no gene mutation in transversion and transition. BRCA | gene SNPs of invasive ductal carcinoma. The most prevalent gene mutation was transversion (45%). In functional mutation of BRCA 1 gene of fibroadenoma, no gene mutation in fibroadenoma. BRCA | gene of invasive ductal carcinoma the most prevalent was missense (71%). BRCA 2 gene SNPs of invasive ductal carcinoma recorded mutation in transition (100%). In the comparison of BRCA gene SNPs of fibroadenoma, the most prevalent was indel (100%), invasive ductal carcinoma the most prevalent was transition (50%). The comparison of BRCA gene functional mutation shows that missense (70%) was the most prevalent. BRCA | and BRCA 2 gene mutation can be implicated in breast carcinogenesis.