Longgang Center for Disease Control and Prevention of Shenzhen, Shenzhen, China.
Breast Cancer Res Treat. 2011 Jan;125(2):473-7. doi: 10.1007/s10549-010-0977-x. Epub 2010 Jun 11.
Epidemiological studies have evaluated the association between ATM C.1066-6T > G (IVS10-6T > G) mutation and breast cancer risk. However, the results remain conflicting rather than conclusive. In order to derive a more precise estimation of the relationship, we performed this meta-analysis. Systematic searches of PubMed and Medline databases were performed. A total of 11 studies including 8,831 cases and 4,957 controls were identified. The carrier frequency of the ATM C.1066-6T > G mutation was 0.5% (45/8,831) in patients with breast cancer and 0.7% (38/4,957) in healthy controls. When all the 11 studies were pooled into the meta-analysis, there was no evidence for significant association between C.1066-6T > G mutation and breast cancer risk (OR 0.87, 95% CI 0.55-1.37). In the subgroup analyses by source of controls and family history with BRCA1/2 status, no significant association were found in any subgroup of population. When sensitivity analyses were performed, all the results were not materially altered. In summary, the meta-analysis strongly suggests that ATM C.1066-6T > G mutation is not associated with increased breast cancer risk.
流行病学研究评估了 ATM C.1066-6T > G（IVS10-6T > G）突变与乳腺癌风险之间的关联。然而，结果仍然存在争议，而不是结论性的。为了得出更精确的关系估计，我们进行了这项荟萃分析。系统地检索了 PubMed 和 Medline 数据库。共纳入 11 项研究，包括 8831 例病例和 4957 例对照。乳腺癌患者中 ATM C.1066-6T > G 突变的携带频率为 0.5%（45/8831），健康对照中为 0.7%（38/4957）。当将所有 11 项研究汇总进行荟萃分析时，C.1066-6T > G 突变与乳腺癌风险之间没有明显的关联证据（OR 0.87，95%CI 0.55-1.37）。在按对照来源和 BRCA1/2 状态的家族史进行的亚组分析中，在任何亚组人群中均未发现明显的关联。当进行敏感性分析时，所有结果均未发生实质性改变。总之，荟萃分析强烈表明 ATM C.1066-6T > G 突变与增加的乳腺癌风险无关。
