title: Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
abstract: OBJECTIVE
  DNA damage recognition and repair play a major role in risk for breast cancer. We investigated 104 single nucleotide polymorphisms (SNP) in 17 genes whose protein products are involved in double-stranded break repair (DSBR).
  
  
  METHODS
  We used a case-control design. Both the case individuals affected with breast cancer or with both breast and ovarian cancers and the controls had similar familial risk of breast cancer and were participants in a high-risk cancer registry.
  
  
  RESULTS
  We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk.
  
  
  CONCLUSIONS
  SNPs within or near several DSBR DNA repair pathway genes are associated with breast cancer in individuals from a high-risk population. In addition, our study reemphasizes the unique perspective that recruitment of cases and controls from family cancer registries has for gene discovery studies.
authors.affiliation: Divisions of Hematology and Oncology and Geriatrics, Department of Medicine, David Geffen School of Medicine at University of California at Los Angeles, USA. msehl@mednet.ucla.edu
authors.forename: Mary E
authors.initials: ME
authors.lastname: Sehl
authors.forename: Lucy R
authors.initials: LR
authors.lastname: Langer
authors.forename: Jeanette C
authors.initials: JC
authors.lastname: Papp
authors.forename: Lorna
authors.initials: L
authors.lastname: Kwan
authors.forename: Joyce L
authors.initials: JL
authors.lastname: Seldon
authors.forename: Geovanni
authors.initials: G
authors.lastname: Arellano
authors.forename: Jean
authors.initials: J
authors.lastname: Reiss
authors.forename: Elaine F
authors.initials: EF
authors.lastname: Reed
authors.forename: Sugandha
authors.initials: S
authors.lastname: Dandekar
authors.forename: Yael
authors.initials: Y
authors.lastname: Korin
authors.forename: Janet S
authors.initials: JS
authors.lastname: Sinsheimer
authors.forename: Zuo-Feng
authors.initials: ZF
authors.lastname: Zhang
authors.forename: Patricia A
authors.initials: PA
authors.lastname: Ganz
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D018797:Cell Cycle Proteins; D004260:DNA Repair; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics; D010750:Phosphoproteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D010750:Phosphoproteins; C429022:RAD21 protein, human; C101467:XRCC4 protein, human