NBS1基因657de15突变与乳腺癌易感性Meta分析

目的：综合分析NBS1基因中657de15突变与乳腺癌易感性的相关性。方法：检索PubMed、EMBAsE和Co—chrane Library等外文数据库，CNKI和万方等中文数据库，检索起止时间为1990—01—2013—11，收集关于NBS1基因657de15突变与乳腺癌易感性的独立病例对照研究，使用Meta分析的方法对各研究数据合并0R值及95％可信区间，进行统计学分析及异质性检验，并检测敏感性及发表偏倚。结果：共纳入8篇文献，包括7534例病例和14034例对照，Meta分析结果显示，NBS1基因657de15突变人群乳腺癌发病风险明显增高，0R=2．63，95％CI：1．76～3．93。种族亚组分析结果显示，NBS1基因中657de15突变与德国人无统计学关联，0R=2．46，95％CI：0．28～17．86，与俄罗斯及白俄罗斯（OR=5．22，95％CI：1．54～17．63）和波兰人（OR=2．29，95％CI：1．47～3．55）乳腺癌易感性相关。结论：NBS1基因657de15突变与乳腺癌易感性相关，657de15突变人群是乳腺癌的高危人群。

Meta analysis on the association between 657de15 gene mutation in the NBS1 gene and susceptibility of breast cancer

OBJECTIVE：To investigate the association between 657de15 gene mutation in the NBS1 gene and the sus- ceptibility of breast cancer through a Meta analysis. METHODS： The case-control studies from Pubmed, EMBAsE, Co- chrane Library and CNKI for the association between 657de15 gene mutation in the NBS1 gene and the susceptibility of breast cancer were searched. The pools OR with 95%CI were calculated to assess the association strength using Meta methods. Heterogeneity, sensitivity and publication bias were evaluated. RESULTS： Eight case-control studies with 7 534 cases and 14 034 controls were analysed. The pooled results indicated that 657de15 gene mutation increased the risk of breast cancer with OR= 2.63,95 % CI（1. 76--3. 93）. Racial subgroup analysis showed that the increased risk of breast cancer was found in subgroups ol Russia and Byelorussian（OR= 5.22,95 % CI：I. 54--17.63）, Poland（OR= 2.29,95 % CI： 1.47--3.55） ,but not Germany（OR=2.46,95%CI：0.28--17.86）. CONCLUSIONS.. There are enough current evidences to prove the relationship between 657de15 gene mutation in the NBS1 gene and the susceptibility of breast cancer. The crowd carrying the 657de15 gene mutation has a higher risk of breast cancer.