Minor role of BRCA۲ mutation (Exon۲ and Exon۱۱) in patients with early-onset breast cancer amongst Iranian Azeri-Turkish women

Objective(s): Breast cancer is the most common cancer in women. Every year, one million new cases are reported worldwide, representing ۱۸% of the total number of cancer in women. Hereditary BRCA۱ and BRCA۲ mutations account for about ۶۰% of inherited breast cancer and are the only known causes of hereditary breast cancer syndrome. The aim of this study was to determine the frequency of BRCA۲ (exon۲ and exon۱۱) gene mutation in patients with early-onset breast cancer among Iranian Azeri-Turkish women. Materials and Methods: We obtained clinical information, family history and peripheral blood from ۱۱۰ women under the age of ۴۵ with early-onset breast cancer for scanning germline mutations in the exon۲ and ۱۱ of BRCA۲ genes which comprises over ۵۰% of the gene. Single-strand conformation polymorphism assay was used in order for screening potential mutations on amplified regions followed by direct sequencing analysis to determine the genotypes. Results: Overall, ۱۱ sequence variants were identified in this study group, including four homozygotes and seven heterozygotes silent substitution of c.۳۸۰۷T to C, p.Val۱۲۶۹Val (rs۵۴۳۳۰۴). Conclusion: Mutations in BRCA۲ were surprisingly infrequent in the early onset breast cancer patients among Iranian Azeri-Turkish women.

Keywords:

BRCA۲ , Breast Cancer , Iranian Population , Mutation detection , Sequencing , SSCP