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01-05-2010 | Epidemiology

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

Authors: Maria A. Loizidou, Marios A. Cariolou, Susan L. Neuhausen, Robert F. Newbold, Evy Bashiardes, Yiola Marcou, Thalia Michael, Maria Daniel, Eleni Kakouri, Panayiotis Papadopoulos, Simon Malas, Andreas Hadjisavvas, Kyriacos Kyriacou

Published in: Breast Cancer Research and Treatment | Issue 1/2010

Abstract

Inability 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 NBS1 gene were associated with a decrease in breast cancer risk (OR TT vs. TC/CC = 0.58; 95% CI, 0.37–0.92; P = 0.019 and OR GG vs. GT/TT = 0.23, 95% CI 0.06–0.85, P = 0.017, respectively). The variant allele of MRE11A 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; P = 0.0022). MUS81 rs545500 and PBOV1 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; P = 0.031; OR AA vs. AG/GG = 1.53, 95% CI, 1.07–2.18; P = 0.019, respectively). Finally, haplotype-based tests identified significant associations between specific haplotypes in MRE11A and NBS1 genes and breast cancer risk. Further large-scale studies are needed to confirm these results.

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Title: Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population
Authors: Maria A. Loizidou
Marios A. Cariolou
Susan L. Neuhausen
Robert F. Newbold
Evy Bashiardes
Yiola Marcou
Thalia Michael
Maria Daniel
Eleni Kakouri
Panayiotis Papadopoulos
Simon Malas
Andreas Hadjisavvas
Kyriacos Kyriacou
Publication date: 01-05-2010
Publisher: Springer US
Published in: Breast Cancer Research and Treatment / Issue 1/2010
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-009-0518-7

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