Investigation of rs2234693 C/T Polymorphism in Estrogen Alpha-Receptor Gene and its Relationship with Breast Cancer Susceptibility in West of Mazandaran Province, Iran

Abstract

Background and purpose: Estrogen hormone is a physiological regulator of breast tissue proliferation and changes in its signaling pathways, including the alpha-estrogen receptor, occurs during breast cancer and its progression. Single-nucleotide polymorphisms (SNPs) in genes can lead to differences in cancer susceptibility and response to treatment in different populations. In the present study, we investigated rs2234693 C/T single-nucleotide polymorphism in ESRα gene in breast cancer patients and healthy population in west of Mazandaran province, Iran. Materials and methods: A case-control study was performed in 91 healthy women without family history of breast cancer and 71 women with breast cancer admitted to oncology department in Ramsar Imam Sajjad Hospital between April and September 2017. Peripheral blood (3 ml) was taken from the subjects and stored at -20°C. The PCR-RFLP method was used to determine the distribution of rs2234693 polymorphisms. Results: The incidence of breast cancer in individuals with homozygous TT genotype was significantly higher (p<0.001) compared to those with CT and wild CC. Moreover, individuals with T allel are at significantly higher and increased risk for breast cancer (OR =2.207, 95%CI =1.40-3.48, p= 0.001). Conclusion: To the best of our knowledge, this study for the first time suggested that T allele of rs2234693 C/T polymorphism might be a leading allele that cause increased breast cancer susceptibility in west of Mazandaran province.

Keywords

• breast cancer
• estrogen receptor alpha
• mazandaran
• iran
• pcr-rflp