Genetic Susceptibility to Breast cancer in East Azerbaijan, Iran

Background: Breast cancer is the most common cause of death among women in the world and in Iran. A number of risk factors for breast cancer development have been identified, among which the most important is positive family history. Alterations in different genes, including BRCA1, BRCA2, p53, CHEK2, PTEN, and ATM, also induce a predisposition for breast cancer. Among these changes, BRCA1 and BRCA2 alterations are the strongest drivers of breast cancer predisposition. Aim: This study was aimed at contributing to the development of appropriate methods for detecting genetic alterations, such as single or multiple exon deletions and amplifications, in the aforementioned genes. Materials and Methods: We used multiplex ligation-dependent probe amplification (MLPA) to determine genetic alterations in 150 female patients who hail from East Azerbaijan, Iran and suffer from familial breast cancer. Specifically, we investigated copy number changes in BRCA1, ATM, p53, CHEK2, and PTEN. Results: MLPA results showed no remarkable mutations in the study population. Conclusion: Size coverage is a critical factor for MLPA to accurately detect potential mutations in familial breast cancer susceptibility genes.