Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population

International audienceInability to correctly repair DNA damage is known to play a role in the development of breast cancer. Single nucleotide polymorphisms (SNPs) of DNA repair genes have been identified, which modify the DNA repair capacity, which in turn may affect the risk of developing breast cancer. To assess whether alterations in DNA repair genes contribute to breast cancer, we genotyped 62 SNPs in 29 genes in 1,109 Cypriot women with breast cancer and 1,177 age-matched healthy controls. Five SNPs were associated with breast cancer. SNPs rs13312840 and rs769416 in the gene were associated with a decrease in breast cancer risk (OR TT vs. TC/CC = 0.58; 95% CI, 0.37–0.92;  = 0.019 and OR GG vs. GT/TT = 0.23, 95% CI 0.06–0.85,  = 0.017, respectively). The variant allele of rs556477 was also associated with a reduced risk of developing the disease (OR AA vs. AG/GG = 0.76; 95% CI, 0.64–0.91;  = 0.0022). rs545500 and rs6927706 SNPs were associated with an increased risk of developing breast cancer (OR GG vs. GC/CC = 1.21, 95% CI, 1.02–1.45;  = 0.031; OR AA vs. AG/GG = 1.53, 95% CI, 1.07–2.18;  = 0.019, respectively). Finally, haplotype-based tests identified significant associations between specific haplotypes in and genes and breast cancer risk. Further large-scale studies are needed to confirm these results