DNA-repair genetic polymorphisms and risk of breast cancer in Cyprus

Maria A. Loizidou, Thalia Michael, Susan L. Neuhausen, Robert F. Newbold, Yiola Marcou, Eleni Kakouri, Maria Daniel, Panayiotis Papadopoulos, Simos Malas, Andreas Hadjisavvas, Kyriacos Kyriacou

Research output: Contribution to journalArticlepeer-review


The DNA repair pathway is known to play a role in the etiology of breast cancer. A number of studies have demonstrated that common germline variants in genes involved in the DNA repair pathway influence breast cancer risk. To assess whether alterations in DNA repair genes contribute to breast cancer, we genotyped 12 single nucleotide polymorphisms (SNPs) in 1,109 Cypriot women with breast cancer and 1,177 age-matched healthy controls. We found significant associations with breast cancer for SNPs in the BRCA2 and MRE11A genes. Carriers of the BRCA2 rs1799944 variant (991 Asp) were found to have an increased risk of breast cancer (OR = 1.41, 95% CI 1.08-1.83, P = 0.01) with P trend = 0.0076. Homozygous carriers of the MRE11A rs601341 A allele had an increased risk of breast cancer (OR = 1.36, 95% CI 1.08-1.71, P = 0.009) with P trend = 0.0087. This study suggests that genetic variants in BRCA2 and MRE11A are associated with breast cancer risk.

Original languageEnglish
Pages (from-to)623-627
Number of pages5
JournalBreast Cancer Research and Treatment
Issue number3
Publication statusPublished - Jun 2009


  • Breast cancer
  • Case-control study
  • Cyprus
  • DNA repair genes
  • Genetic epidemiology
  • SNP


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