Background: Estrogen hormone regulates cell proliferation in breast tissue physiologically. Evidences show that changes in estrogen signaling pathways, including the receptor alpha (ER&alpha), happen during breast cancer progression. ER&alpha is expressed in most breast tumors and its association with the development of low-grade tumors has been demonstrated. Single nucleotide polymorphisms (SNPs) in genes may differ in susceptibility to cancer and result in different respond to treatment in different populations. The present study aimed investigated the association between single nucleotide polymorphisms (rs2234693: C/T) in gene ESR&alpha in patients with breast cancer.

Materials and Methods: In this case-control study 150 women with breast cancer and 142 healthy women without a family history of breast cancer were enrolled. DNA was extracted from blood samples. After primer design, technique of PCR-RFLP was used and samples were genotyped by acrylamide gel electrophoresis. Statistical analyzes were performed using SPSS version 20 and chi square test and Final findings were specified.

Results: TT and CT genotypes for ra2234693: C/T site compared with the CC had 5.5 and 1.5-fold increased risk respectively. Statistically significant differences were found between cases and controls for fibrocystic disease and age at menarche.

Conclusion: We not found an association between C/T polymorphism and breast cancer. But CC and TT genotypes of this polymorphism in estrogen receptor alpha gene related with breast cancer that are consistent with the findings of some other researchers.

Background: Infertility is a multifactorial disorder with genetic and non-genomic factors. It is estimated that female infertility factors accounts for more than 40%. Estrogen is one of the effective hormons  in fertility. Its crucial actions on target tissues are mediated via binding to estrogen receptors(ESR). The ESR1 gene is located on chromosome 6q25.1 and encodes α estrogen receptor. The aim of this study was to analysis of ESR1 rs104893956 polymorphism in female infertility.

Materials and Methods: In this case-control study, of 60 infertiles and 55 healthy controls, blood samples were attained. After the extraction of genomic DNA from peripheral blood leukocytes, Allele Specific-PCR (AS-PCR) method was applied for determining the codon polymorphism. Statistical analysis was performed using the MedCalc software (Version 12.1).

Results: The frecuency of T allele was significantly higher in patients (58%) than the controls (44%). There was higher frequency of TT genotype of the polymorphism in patients (18.33%) compared with controls (1.8%). Our findings revealed that the patients carrying the TT genotype had a significant increased risk of infertility.

Conclusion: The results of this study suggests that ESR1 rs104893956 polymorphism may affect the increased susceptibility to female infertility in Guilan province. The results may be different in other genetic pools or large-studied population.