ER-NE T>C polymorphism in ESR1 gene promoter and increased risk of breast cancer

A change in the expression of estrogen receptor α, as a key mediator of the response to estrogen in breast tissue, plays a role in the susceptibility to breast cancer. In the present study, the relationship between ER-NE T>C functional polymorphism (rs9478245) in the regulatory region of the ESR1 gene and the risk of breast cancer was investigated.

In this case-control study, the rs9478245 polymorphic genotype was determined by PCR-RFLP technique in 200 breast cancer patients and 172 healthy individuals. The collected data were analyzed in SPSS23 software using a logistic regression test with a significance level of p < 0.05.

The results showed that allele C, as well as TC and CC genotypes of rs9478245 polymorphism, significantly increase the risk of breast cancer.

It seems that the ER-NE T>C functional polymorphism affects the susceptibility to breast cancer so that the C allele as a dominant allele increases the risk of breast cancer.