Polymorphisms in the ERCC1 and XPF genes and risk of breast cancer in a Chinese population

Genet Test Mol Biomarkers. 2013 Sep;17(9):700-6. doi: 10.1089/gtmb.2013.0122. Epub 2013 Aug 2.

Abstract

Inherited functional single-nucleotide polymorphisms (SNPs) in DNA repair genes may influence the capability of DNA repair and contribute to the risk of breast cancer. We therefore performed a case-control study to investigate the association of three in excision repair cross-complimentary group 1 (ERCC1) and three in xeroderma pigmentosum complementation group F (XPF) with the risk of breast cancer. Genotyping of ERCC1 (rs2298881, rs3212986, and rs11615) and XPF (rs2276465, rs6498486, and rs2276466) was performed in a 384-well plate format on the MassARRAY(®) platform. Odds ratios and their corresponding 95% confidence intervals were used to assess the effect of each SNP on breast cancer risk. The ERCC1 rs11615 variant A/A genotype was associated with increased breast cancer risk in codominant, dominant, and recessive models, and XPF rs6498486 variant C/C genotype carriers have a significantly increased breast cancer risk in codominant, dominant, and recessive models. Individuals with both the ERCC1 rs11615 A allele and XPF rs6498486 C allele had a heavy increased risk of breast cancer compared to double wild-type homozygotes. The present study shows that the ERCC1 rs11615 and XPF rs6498486 polymorphisms are associated with breast cancer risk in a Chinese population. Further large-scale studies are required to elucidate whether these ERCC1 and XPF SNPs interact with environmental factors in the development of breast cancer.

Publication types

  • Multicenter Study
  • Randomized Controlled Trial

MeSH terms

  • Adult
  • Alleles*
  • Asian People
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • China / epidemiology
  • DNA-Binding Proteins / genetics*
  • Endonucleases / genetics*
  • Female
  • Humans
  • Middle Aged
  • Models, Genetic*
  • Polymorphism, Single Nucleotide*
  • Risk Factors

Substances

  • DNA-Binding Proteins
  • xeroderma pigmentosum group F protein
  • ERCC1 protein, human
  • Endonucleases