Analysis of Single Nucleotide Polymorphisms (SNPs) rs2234693 and rs9340799 of the ESR1 Gene and the Risk of Breast Cancer

Abstract

Background/Aim: The aim of this study was to analyze rs2234693 and rs9340799 polymorphisms of the ESR1 gene in the context of breast cancer risk in Polish patients. Materials and Methods: The study involved a group of 117 patients with breast cancer and 106 controls. The analyses were carried out using the polymerase chain reaction – restriction fragments length polymorphism technique. Results: The presence of the CC genotype in rs2234693 more than doubled the risk of breast cancer (p=0.04), whereas the presence of the TT genotype in rs2234693 significantly reduced the risk of developing this type of cancer (p=0.0002). The presence of the GG genotype in rs9340799 more than doubled the risk of breast cancer (p=0.04), which was confirmed by the analysis of the recessive model (p=0.04). Conclusion: The polymorphisms rs2234693 and rs9340799 of the ESR1 gene may be associated with the risk of breast cancer among Polish women.