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- W2119583167 endingPage "697" @default.
- W2119583167 startingPage "683" @default.
- W2119583167 abstract "Several potentially functional variants of Nijmegen breakage syndrome 1 (NBS1) have been implicated in cancer risk, but individually studies showed inconclusive results. In this study, a meta-analysis based on 60 publications with a total of 39 731 cancer cases and 64 957 controls was performed. The multivariate method and the model-free method were adopted to determine the best genetic model. It was found that rs2735383 variant genotypes were associated with significantly increased overall risk of cancer under the recessive genetic model [odds ratio (OR) =1.12, 95% confidence interval (CI): 1.02-1.22, P = 0.013]. Similar results were found for rs1063054 under the dominant model effect (OR = 1.12, 95% CI: 1.01-1.23, P = 0.024). The I171V mutation, 657del5 mutation and R215W mutation also contribute to the development of cancer (for I171V, OR = 3.93, 95% CI: 1.68-9.20, P = 0.002; for 657del5, OR = 2.79, 95% CI: 2.17-3.68, P < 0.001; for R215W, OR = 1.77, 95% CI: 1.07-2.91, P = 0.025). From stratification analyses, an effect modification of cancer risks was found in the subgroups of tumour site and ethnicity for rs2735383, whereas the I171V, 657del5 and R215W showed a deleterious effect of cancer susceptibility in the subgroups of tumour site. However, rs1805794, D95N and P266L did not appear to have an effect on cancer risk. These results suggest that rs2735383, rs1063054, I171V, 657del5 and R215W are low-penetrance risk factors for cancer development." @default.
- W2119583167 created "2016-06-24" @default.
- W2119583167 creator A5019183099 @default.
- W2119583167 creator A5053985637 @default.
- W2119583167 creator A5068380969 @default.
- W2119583167 creator A5070584914 @default.
- W2119583167 creator A5074822515 @default.
- W2119583167 date "2013-10-10" @default.
- W2119583167 modified "2023-10-13" @default.
- W2119583167 title "Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies" @default.
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- W2119583167 doi "https://doi.org/10.1093/mutage/get048" @default.