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

icecream 添加于 2012-12-2 12:07 | 1235 次阅读 | 0 个评论

作者
Loizidou MA, Cariolou MA, Neuhausen SL, Newbold RF, Bashiardes E, Marcou Y, Michael T, Daniel M, Kakouri E, Papadopoulos P, Malas S, Hadjisavvas A, Kyriacou K
摘要
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.
详细资料
- 关键词: Breast Neoplasms/*genetics; Case-Control Studies; Cell Cycle Proteins/*genetics; Cyprus; DNA-Binding Proteins/*genetics; Female; Genes, BRCA1; Genes, BRCA2; *Genetic Predisposition to Disease; Genotype; Humans; Nuclear Proteins/*genetics; Polymorphism, Single Nucleotide; Risk Factors; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
- 文献种类: Journal Article
- 期刊名称: Breast Cancer Research and Treatment
- 期刊缩写: Breast Cancer Res Treat
- 期卷页: 2010年第121卷第1期 147-156页
- 地址: Department of Electron Microscope/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
- ISBN: 0167-6806
学科领域生物医药 » 预防卫生学
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