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ATM 5557G>A 多态性与乳腺癌风险的关联:一项荟萃分析。

Association between ATM 5557G>A polymorphism and breast cancer risk: a meta-analysis.

机构信息

Division of Epidemiology, School of Public Health and Primary Care, Chinese University of Hong Kong, Shatin, New Territories, Hong Kong, China.

出版信息

Mol Biol Rep. 2012 Feb;39(2):1113-8. doi: 10.1007/s11033-011-0839-6. Epub 2011 May 21.

DOI:10.1007/s11033-011-0839-6
PMID:21603857
Abstract

Epidemiological studies have evaluated the association between ATM 5557G>A (p.D1853N) polymorphism and breast cancer risk. However, the results remain conflicting rather than conclusive. 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 nine studies included 3155 cases and 2752 controls were identified. When all nine studies were pooled into the meta-analysis, there was no evidence for significant association between 5557G>A mutation and breast cancer risk(for G/A vs. G/G: OR = 1.05, 95% CI = 0.83-1.34; for A/A vs. G/G: OR = 0.77, 95% CI = 0.58-1.03; for dominant model: OR = 1.04, 95% CI = 0.82-1.31; for recessive model: OR = 0.87, 95% CI = 0.69-1.09). In the subgroup analyses by family history and ethnicity, significant associations were found among Amerindians (for G/A vs. G/G: OR = 2.19, 95% CI = 1.38-3.47; for dominant model: OR = 2.15, 95% CI = 1.37-3.38). In summary, the meta-analysis suggest that ATM 5557G>A polymorphism is associated with increased breast cancer risk among Amerindians. However, due to the small subjects included in analysis and the selection bias existed in some studies, the results for Amerindians should be interpreted with caution.

摘要

流行病学研究评估了 ATM 5557G>A(p.D1853N)多态性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。为了更准确地评估这种关系,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 9 项研究,包括 3155 例病例和 2752 例对照。当将所有 9 项研究合并到荟萃分析中时,5557G>A 突变与乳腺癌风险之间没有显著关联的证据(对于 G/A 与 G/G:OR=1.05,95%CI=0.83-1.34;对于 A/A 与 G/G:OR=0.77,95%CI=0.58-1.03;对于显性模型:OR=1.04,95%CI=0.82-1.31;对于隐性模型:OR=0.87,95%CI=0.69-1.09)。在按家族史和种族进行的亚组分析中,在美洲印第安人中发现了显著的关联(对于 G/A 与 G/G:OR=2.19,95%CI=1.38-3.47;对于显性模型:OR=2.15,95%CI=1.37-3.38)。总之,荟萃分析表明,ATM 5557G>A 多态性与美洲印第安人乳腺癌风险增加相关。然而,由于分析中纳入的研究对象较小,并且一些研究存在选择偏倚,因此对于美洲印第安人的结果应谨慎解释。

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2
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J Cancer Res Clin Oncol. 2008 Aug;134(8):873-82. doi: 10.1007/s00432-008-0355-9. Epub 2008 Feb 9.
3
ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?
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Oncotarget. 2016 Nov 22;7(47):76867-76881. doi: 10.18632/oncotarget.12724.
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