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

Breast cancer accounts for about one-third of woman’s cancers today and it has beenincreasing in Iranian women, recently. Changes in the estrogen signaling pathway, including changesin the estrogen receptor α (ESR۱) gene, play an important role in the development of breast cancer. Thecurrent study was conducted to investigate the distribution of the rs۲۲۳۴۶۹۳ ESR۱ polymorphism inbreast cancer patients. Peripheral blood samples were taken from ۶۰ breast cancer patients and ۶۰healthy individuals, referring to the Imam Khomeini hospital, Sari, Iran, to determine the (rs۲۲۳۴۶۹۳T>C) single nucleotide polymorphism (SNP). Genomic DNA was extracted using the salting-outmethod and genotyping was performed by PCR-RFLP assay. Statistical analysis was performed usingMedcalc version ۱۵ software. frequency of TC, TT, and CC genotypes among healthy controls were۶۵%, ۱۵%, and ۲۰%, respectively. The patient group had a frequency of ۳۸.۵%, ۳۸.۵%, and ۲۳% forTC, TT, and CC genotypes, respectively. Our results showed a significant difference in the prevalenceof ESR۱ gene genotypes between patients and control groups (χ۲= ۱۰.۴۰۸, p= ۰.۰۰۵). This studyshowed that the ESR۱ polymorphism may be involved with the increased risk of breast cancerdevelopment and the rs۲۲۳۴۶۹۳ T>C SNP could be regarded as potent marker for breast cancerscreening approaches.

کلیدواژه ها:

gene polymorphism ، Breast Cancer ، ESR۱ ، RFLP-PCR