Current Evidence on the Relationship Between Two Polymorphisms in the NBS1 Gene and Breast Cancer Risk: a Meta-analysis


Introduction: Published studies on the association between Nijmegen breakage syndrome 1(NBS1) genepolymorphisms and breast cancer risk have been inconclusive, and a meta-analysis was therefore performed forclarification.
Methods: Eligible articles were identified by a search of MEDLINE and EMBASE bibliographicdatabases for the period up to March 2012. The presence of between-study heterogeneity was investigated usingthe chi-square-based Cochran’s Q statistic test. When there was statistical heterogeneity, the random effectsmodel was chosen; otherwise, fixed effects estimates were reported as an alternative approach.
Results: A totalof 11 eligible articles (14 case-control studies) were identified, nine case-control studies were for the 657del5mutation (7,534 breast cancer cases, 14,034 controls) and five case-control studies were for the I171V mutation(3,273 breast cancer cases, 4,004 controls). Our analysis results indicated that the 657del5 mutation was associatedwith breast cancer risk (carriers vs. non- carriers: pooled OR =2.63, 95% CI: 1.76-3.93), whereas the I171Vmutation was not (carriers vs. non-carriers: pooled OR =1.52, 95% CI: 0.70-3.28).
Conclusion: The presentmeta-analysis suggests that the 657del5 gene mutation in the NBS1 gene plays a role in breast cancer risk, whilethe I171V mutation does not exert a significant influence