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

Maria A. Loizidou (1) , Thalia Michael (1) , Susan L. Neuhausen (2) , Robert F. Newbold (3) , Yiola Marcou (4) , Eleni Kakouri (4) , Maria Daniel (4) , Panayiotis Papadopoulos (4) , Simos Malas (5) , Andreas Hadjisavvas (1) , Kyriacos Kyriacou (1)

1 Department of Electron Microscope/Molecular Pathology
2 Department of Epidemiology, School of Medicine
3 Brunel Institute of Cancer Genetics and Pharmacogenomics, Faculty of Life Sciences
4 Bank of Cyprus Oncology Center
5 Department of Oncology

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 and genes. Carriers of the rs1799944 variant (991 Asp) were found to have an increased risk of breast cancer (OR = 1.41, 95% CI 1.08–1.83,  = 0.01) with  = 0.0076. Homozygous carriers of the rs601341 A allele had an increased risk of breast cancer (OR = 1.36, 95% CI 1.08–1.71,  = 0.009) with  = 0.0087. This study suggests that genetic variants in and are associated with breast cancer risk.

Mots clés: Breast cancer; Case-control study; Cyprus; DNA repair genes; Genetic epidemiology; SNP

Maria A. Loizidou, Thalia Michael, Susan L. Neuhausen, Robert F. Newbold, Yiola Marcou, et al.. DNA-repair genetic polymorphisms and risk of breast cancer in Cyprus. Breast Cancer Research and Treatment, 2008, 115 (3), pp.623-627. ⟨10.1007/s10549-008-0084-4⟩. ⟨hal-00478241⟩