Estrogen Receptor 1 Gene (ESR1) rs2234693 Polymorphism and Breast Cancer Risk in Saudi Women

OBJECTIVE: The present study aimed to determine the role of ESR1 gene rs2234693 T/C polymorphism (PvuII) in the susceptibility to breast cancer and to assess the association of this polymorphism within presence or absence of estrogen, progesterone receptors, human epidermal growth factor receptor 2 (HER2) and with premenopausal and postmenopausal age in Saudi women. METHODS: The study was a retrospective case-control study. In this study, 137 breast cancer and 98 normal breast paraffin embedded tissues were included. DNA was extracted and ESR1 gene rs2234693 T/C polymorphism was genotyped by PCR-RFLP. Genetic association tests were performed. RESULTS: The results showed no significant difference in distribution of rs2234693 T/C alleles and genotypes frequencies. Odd ratios (95% CI) were 1.15 (0.8-1.66) and 1.06 (0.5-1.98) and p values were 0.51 and 0.87, respectively. The genotypes and alleles frequencies within different hormonal receptors groups and ages of menopause showed no signification association (odd ratios were less or close to 1 and p values > 0.05). CONCLUSION: ESR1 gene rs2234693 T/C polymorphism was not associated with susceptibility to breast cancer and different menopausal, hormone receptors, and HER2 status in breast cancer patients. Further analysis using larger sample size will be needed to assess the association of different polymorphisms within the gene and risk of breast cancer.