title: Genetic polymorphisms in the DNA repair genes XRCC1, XRCC2 and XRCC3 and risk of breast cancer in Cyprus.
abstract: Population-based studies have reported significant associations between specific genetic polymorphisms and breast cancer susceptibility. A number of studies have demonstrated that common variants of genes involved in the DNA repair pathway act as low penetrance breast cancer susceptibility alleles. We aimed to investigate the association of single nucleotide polymorphisms (SNPs) in the DNA repair genes XRCC1, XRCC2 and XRCC3 and breast cancer in MASTOS, a population-based case-control study of 1,109 Cypriot women with breast cancer diagnosed between 40 and 70 years and 1,177 age-matched healthy controls. Five coding SNPs were genotyped including rs1799782, rs25489 and rs25487 in XRCC1, rs3218536 in XRCC2 and rs861539 in XRCC3. Homozygous XRCC1 280His carriers had an increased risk of breast cancer (odds ratio 4.68; 95% CI 1.01-21.7; P = 0.03). The XRCC2 188His allele was associated with a marginal protective effect for breast cancer (odds ratio 0.79; 95% CI 0.62-1.00; P = 0.05). No significant associations were observed between the other three SNPs and breast cancer. This study suggests that genetic variation in SNPs in XRCC1 and XRCC2 genes may influence breast cancer susceptibility.
authors.affiliation: Department of Electron Microscope/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Ayios Dometios, Nicosia, Cyprus.
authors.forename: Maria A
authors.initials: MA
authors.lastname: Loizidou
authors.forename: Thalia
authors.initials: T
authors.lastname: Michael
authors.forename: Susan L
authors.initials: SL
authors.lastname: Neuhausen
authors.forename: Robert F
authors.initials: RF
authors.lastname: Newbold
authors.forename: Yiola
authors.initials: Y
authors.lastname: Marcou
authors.forename: Eleni
authors.initials: E
authors.lastname: Kakouri
authors.forename: Maria
authors.initials: M
authors.lastname: Daniel
authors.forename: Panayiotis
authors.initials: P
authors.lastname: Papadopoulos
authors.forename: Simos
authors.initials: S
authors.lastname: Malas
authors.forename: Kyriacos
authors.initials: K
authors.lastname: Kyriacou
authors.forename: Andreas
authors.initials: A
authors.lastname: Hadjisavvas
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism*; D016022:Case-Control Studies; D003535:Cyprus; D004260:DNA Repair; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D012306:Risk; D000076105:X-ray Repair Cross Complementing Protein 1
chemical_list: D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1; C110901:X-ray repair cross complementing protein 3; C000619371:XRCC1 protein, human; C113187:XRCC2 protein, human