Distribution of Estrogen Receptor ۱ (ESR۱) gene (rs۲۲۳۴۶۹۳) polymorphism among breastcancer patients from Mazandaran province, Iran; a case-control study

Background: Breast cancer accounts for about one-third of woman’s cancers today and theincidence of breast cancer has been increasing in Iranian women, recently. Changes in the estrogen signaling pathway, including changes in the estrogen receptor α (ESR۱) gene, play an important role in the development of breast cancer, especially in the whites. The current study was conducted to investigate the distribution of the rs۲۲۳۴۶۹۳ ESR۱ polymorphism in breast cancer patients.Methods: Peripheral blood samples were taken from ۶۰ breast cancer patients and ۶۰ healthy individuals, referring to the Imam Khomeini hospital, Sari, Iran, to determine the (rs۲۲۳۴۶۹۳ T>C) single nucleotide polymorphism (SNP). Genomic DNA was extracted using the salting-out method and genotyping was performed by PCR-RFLP assay. Statistical analysis was performed using Medcalc version ۱۵ software. Results: frequency of TC, TT, and CC genotypes among healthy controls were ۶۵%, ۱۵%, and ۲۰%, respectively. The patient group had a frequency of ۳۸.۵%, ۳۸.۵%, and ۲۳% for TC, TT, and CC genotypes, respectively. Our results showed a significant difference in the prevalence of ESR۱ gene genotypes between patients and control groups (χ۲= ۱۰.۴۰۸, p= ۰.۰۰۵).Conclusion: This study showed that the ESR۱ polymorphism may be involved with the increased risk of breast cancer development and the rs۲۲۳۴۶۹۳ T>C SNP could be regarded as potent marker for breast cancer screening approaches.

Keywords:

gene polymorphism , Breast Cancer , ESR۱ , RFLP-PCR