title: The association between a novel polymorphism (rs1062577) in ESR1 and breast cancer susceptibility in the Han Chinese women.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  To investigate the possible association of genetic polymorphisms of any of the three ESR1 SNPs in breast cancer patients (n = 198) and healthy controls (n = 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.
  
  
  RESULTS
  Patients genotyped AA for ESR1 rs1062577 showed increased breast cancer risk (p = 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 > 13-year-old group, the AA genotype at rs1062577, the GG genotype at rs2881766, and the CC genotype at rs9479118 increased breast cancer susceptibility.
  
  
  CONCLUSIONS
  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.
authors: a Department of Laboratory Medicine , The First Affiliated Hospital of China Medical University , Shenyang , Liaoning Province , China.
authors: Li
authors: L
authors: Chen
authors: a Department of Laboratory Medicine , The First Affiliated Hospital of China Medical University , Shenyang , Liaoning Province , China.
authors: Hui
authors: H
authors: Kang
authors: a Department of Laboratory Medicine , The First Affiliated Hospital of China Medical University , Shenyang , Liaoning Province , China.
authors: Guo-Jiang
authors: GJ
authors: Jin
authors: a Department of Laboratory Medicine , The First Affiliated Hospital of China Medical University , Shenyang , Liaoning Province , China.
authors: Xin
authors: X
authors: Chen
authors: a Department of Laboratory Medicine , The First Affiliated Hospital of China Medical University , Shenyang , Liaoning Province , China.
authors: Qing-Yang
authors: QY
authors: Zhang
authors: a Department of Laboratory Medicine , The First Affiliated Hospital of China Medical University , Shenyang , Liaoning Province , China.
authors: Wen-Ting
authors: WT
authors: Lao
authors: a Department of Laboratory Medicine , The First Affiliated Hospital of China Medical University , Shenyang , Liaoning Province , China.
authors: Rui
authors: R
authors: Li
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D002681:China; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008572:Menarche / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha
keywords: Breast cancer; Chinese women; estrogen receptor 1; rs1062577; single nucleotide polymorphisms