A cross-sectional study of associations between nonsynonymous mutations of the BARD1 gene and breast cancer in Han Chinese women

Asia Pac J Public Health. 2013 Jul;25(4 Suppl):8S-14S. doi: 10.1177/1010539513497220.

Abstract

The PCR-PIRA and PCR-RFLP techniques were used for BARD1 genotyping. Correlations between gene polymorphisms and the susceptibility to breast cancer were analyzed by logistic regression analysis.

Results: showed that compared with the wild type of 378 Arg/Arg of BRAD1, the homozygotic type of 378 Ser/Ser with Arg378Ser site mutation had a protective effect (adjusted odds ratio: 0.628, 95% confidence interval: 0.306-1.145). Compared with individuals carrying the wild type of 24Pro/Pro, the disease risk of individuals with the heterozygous type of 24 Pro/Ser decreased by 30.6% and that with the mutational homozygotic type of 24 Ser/Ser decreased by 43.8%. SNP sites rs2229571 and rs1048108 of BARD1 are associated with a lower risk of breast cancer but not rs2070094.

Keywords: BARD1 gene; association analysis; breast cancer susceptibility; nonsynonymous mutation; polymorphism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Neoplasms / genetics*
  • Case-Control Studies
  • China
  • Cross-Sectional Studies
  • Female
  • Genetic Predisposition to Disease*
  • Genotyping Techniques
  • Humans
  • Logistic Models
  • Middle Aged
  • Polymorphism, Single Nucleotide / genetics*
  • Risk
  • Tumor Suppressor Proteins / genetics*
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • Tumor Suppressor Proteins
  • BARD1 protein, human
  • Ubiquitin-Protein Ligases