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

In Vivo. 2024 Sep-Oct;38(5):2134-2143. doi: 10.21873/invivo.13676.

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.

Keywords: ESR1; breast cancer; polymorphism; rs2234693; rs9340799.

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Breast Neoplasms* / epidemiology
  • Breast Neoplasms* / genetics
  • Case-Control Studies
  • Estrogen Receptor alpha* / genetics
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genotype*
  • Humans
  • Middle Aged
  • Poland / epidemiology
  • Polymorphism, Single Nucleotide*
  • Risk Factors

Substances

  • Estrogen Receptor alpha
  • ESR1 protein, human