The association between a novel polymorphism (rs1062577) in ESR1 and breast cancer susceptibility in the Han Chinese women

<i>Objective</i>: The aim of the present study was to analyze the genetic association between the three estrogen receptor 1 (ESR1) single nucleotide polymorphisms (SNPs; rs1062577, rs2881766, and rs9479118) and breast cancer risk in Han Chinese women. <i>Methods/materials</i>: To investigate the possible association of genetic polymorphisms of any of the three ESR1 SNPs in breast cancer patients (<i>n</i> = 198) and healthy controls (<i>n</i> = 218) collected from the college hospital, peripheral blood mononuclear cells samples were analyzed by high-resolution melt-polymerase chain reaction. Odds ratios and 95% confidence intervals were used to evaluate the association between the ESR1 SNPs and breast cancer. <i>Results</i>: Patients genotyped AA for ESR1 rs1062577 showed increased breast cancer risk (<i>p</i> = 0.005). In the menarche at ≤ 13-year-old group, there were significant differences in alleles A versus T at rs1062577 and alleles G versus T at rs2881766 between the breast cancer group and the control group. In the &gt; 13-year-old group, the AA genotype at rs1062577, the GG genotype at rs2881766, and the CC genotype at rs9479118 increased breast cancer susceptibility. <i>Conclusions</i>: These results showed that the ESR1 rs1062577 polymorphism increased breast cancer risk in Han Chinese women, which might be used as a new SNP marker.