ESR1 gene variants, haplotypes and diplotypes may influence the risk of breast cancer and mammographic density

• DOI: 10.1007/s11033-020-05823-7
• Publication Date: 2020-10-24T18:02:35Z
• Authors: Asma Khorshid Sha...; Fahimeh Afzaljavan; Maryam Alidoust; Vahideh Taherian; Fatemeh Vakili; Atefeh Moezzi; Fatemeh Homaei Sh...; Donya Farrokh; Alireza Pasdar
• Keywords: Estrogen receptor alpha

Breast cancer as the most common cancer worldwide is influenced by genetic and physiological factors. Based on some evidence indicating the role of estrogen receptor 1 gene (ESR1) in breast cancer development, in this study, the association of three common variations in ESR1 gene with breast cancer and density in an Iranian population was evaluated. In a case-control study, 400 blood samples were collected for DNA extraction and genotyping. Breast density was assessed using mammography. ESR1 rs6915267 (G/A), rs2077647 (C/T) and rs1801132 (C/G) were genotyped using ARMS-PCR method. PHASE program was used to estimate the haplotypes frequencies. Our data analysis showed rs6915267 GA genotype in the heterozygous (GA) as well as co-dominant models was associated with lower mammographic density. None of the three variations were associated with the breast cancer risk. Haplotype analysis indicated G-T-C haplotype of rs6915267, rs2077647 and rs1801132 [OR = 0.54, 95% CI (0.31-0.92), p = 0.025] and G-T/G-T diplotype of rs6915267-rs2077647 [OR = 0.38, 95% CI (0.17-0.86), p = 0.019] were associated with a decreased risk of breast cancer. ESR1 may affect density of the breast and its haplotypes may modulate breast cancer risk.