title: Mismatch Repair Polymorphisms as Markers of Breast Cancer Prevalence in the Breast Cancer Family Registry.
abstract: 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.
  
  
  
  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.
  
  
  
  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).
  
  
  
  Deficiencies in DNA repair pathways, such as MMR, have implications for the onset of familial breast cancer.
authors.affiliation: Department of Environmental Health Sciences, Mailman School of Public Health, Columbia University, New York, NY, U.S.A. maya.kappil@mssm.edu.
authors.forename: Maya
authors.initials: M
authors.lastname: Kappil
authors.affiliation: Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, U.S.A. Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY, U.S.A.
authors.forename: Mary Beth
authors.initials: MB
authors.lastname: Terry
authors.affiliation: Department of Environmental Health Sciences, Mailman School of Public Health, Columbia University, New York, NY, U.S.A.
authors.forename: Lissette
authors.initials: L
authors.lastname: Delgado-Cruzata
authors.affiliation: Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, U.S.A.
authors.forename: Yuyan
authors.initials: Y
authors.lastname: Liao
authors.affiliation: Department of Environmental Health Sciences, Mailman School of Public Health, Columbia University, New York, NY, U.S.A. Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY, U.S.A.
authors.forename: Regina M
authors.initials: RM
authors.lastname: Santella
mesh_terms: D000328:Adult; D000483:Alleles; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D053843:DNA Mismatch Repair; D004260:DNA Repair; D005091:Exons; D005192:Family Health; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D012042:Registries; D035781:Siblings
keywords: Breast cancer; family history; mismatch repair; single nucleotide polymorphisms