Schrauder M, Frank S, Strissel P L, Lux M P, Bani M R, Rauh C, Sieber C C, Heusinger K, Hartmann A, Schulz-Wendtland R, Strick R, Beckmann M W, Fasching Peter A
University Breast Center for Franconia, Erlangen University Hospital, Universitaetsstrasse 21-23, 91054, Erlangen, Bavaria, Germany.
J Cancer Res Clin Oncol. 2008 Aug;134(8):873-82. doi: 10.1007/s00432-008-0355-9. Epub 2008 Feb 9.
Various ATM (ataxia telangiectasia-mutated) mutations and polymorphisms have been reported to be associated with an increased breast cancer risk. Recent studies have produced contradictory results regarding the association between ATM genetic variants and breast cancer risk.
The common ATM polymorphism 5557G>A (p.D1853N) (rs1801516), previously suggested to be associated with bilateral breast cancer, was analyzed using real-time PCR in 514 unselected patients with breast cancer and 511 age-matched healthy control individuals. DNA was obtained from peripheral blood draw.
The ATM genotype was weakly associated with the risk for breast cancer (P = 0.04 for the overall test). The odds ratio for women with a heterozygous genotype was 0.70 (95% CI, 0.52-0.94) and for the homozygous variant 0.63 (95% CI, 0.27-1.49). Disease-free survival and overall survival showed no significant association with specific genotypes.
The results of this study might suggest a minor association between polymorphism 5557G>A and a reduced risk of breast cancer.
据报道，多种共济失调毛细血管扩张症突变基因（ATM）的突变和多态性与乳腺癌风险增加有关。最近的研究对于ATM基因变异与乳腺癌风险之间的关联得出了相互矛盾的结果。
采用实时聚合酶链反应（PCR）对514例未经选择的乳腺癌患者和511例年龄匹配的健康对照个体进行分析，检测先前认为与双侧乳腺癌相关的常见ATM多态性5557G>A（p.D1853N）（rs1801516）。DNA取自外周血。
ATM基因型与乳腺癌风险存在弱关联（总体检验P = 0.04）。杂合基因型女性的比值比为0.70（95%可信区间，0.52 - 0.94），纯合变异型为0.63（95%可信区间，0.27 - 1.49）。无病生存期和总生存期与特定基因型无显著关联。
本研究结果可能提示5557G>A多态性与降低的乳腺癌风险之间存在轻微关联。
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