Mismatch Repair Polymorphisms as Markers of Breast Cancer Prevalence in the Breast Cancer Family Registry

Anticancer Res. 2016 Sep;36(9):4437-41. doi: 10.21873/anticanres.10987.


Background: Major breast cancer susceptibility genes involved in DNA repair, including BRCA1 and BRCA2, have been identified. However, mutations in these genes account for only 5-10% of identified breast cancer cases. Additional DNA repair pathway genes may also contribute to susceptibility.

Materials and methods: We investigated the association between 12 single nucleotide polymorphisms (SNPs) in mismatch repair (MMR) genes and breast cancer risk among 313 sister-sets enrolled in the New York site of the Breast Cancer Family Registry (BCFR) (n=744) using conditional logistic regression analysis.

Results: An increase in breast cancer risk was observed for women with the MUTYH_rs3219489 variant allele (odds ratio (OR)=2.23, 95% confidence interval (CI)=1.10-4.52) and for women with the MSH2_rs2303428 variant allele (OR=1.73, 95% CI=1.00-2.99).

Conclusion: Deficiencies in DNA repair pathways, such as MMR, have implications for the onset of familial breast cancer.

Keywords: Breast cancer; family history; mismatch repair; single nucleotide polymorphisms.

MeSH terms

  • Adult
  • Alleles
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Case-Control Studies
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • DNA Mismatch Repair*
  • DNA Repair
  • Exons
  • Family Health
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genotype
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Odds Ratio
  • Polymorphism, Single Nucleotide*
  • Prevalence
  • Registries
  • Siblings

Supplementary concepts

  • Breast Cancer, Familial