Fletcher Olivia, Johnson Nichola, Palles Claire, dos Santos Silva Isabel, McCormack Valerie, Whittaker John, Ashworth Alan, Peto Julian
The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, 237 Fulham Road, London SW3 6JB, UK.
J Natl Cancer Inst. 2006 Jul 19;98(14):1014-8. doi: 10.1093/jnci/djj268.
STK15 may be a low-penetrance breast cancer susceptibility gene, and several reports suggest that women who are homozygous for the polymorphic variant F31I have an increased risk of breast cancer. To evaluate this potential breast cancer allele, we genotyped 507 patients with two primary breast cancers and 875 population-based control subjects for the STK15 F31I polymorphism. All statistical tests were two-sided. The Ile/Ile homozygous genotype was not associated with an increased risk in white women of British descent. The odds ratio for developing two primary breast cancers) in Ile/Ile homozygotes was 0.63 (95% confidence interval [CI] = 0.34 to 1.13), which corresponds to an odds ratio of 0.79 (95% CI = 0.58 to 1.06) for a first primary breast cancer. A meta-analysis of this study and other published studies showed statistically significant heterogeneity in the odds ratio estimates (P<.001). This heterogeneity could reflect either population-specific linkage disequilibrium with a functional variant or artifacts such as population stratification or publication bias.
STK15可能是一种低外显率的乳腺癌易感基因，多项报告表明，多态性变体F31I的纯合女性患乳腺癌的风险增加。为评估这种潜在的乳腺癌等位基因，我们对507例患有双侧原发性乳腺癌的患者和875例基于人群的对照受试者进行了STK15 F31I多态性基因分型。所有统计检验均为双侧检验。在英国血统的白人女性中，Ile/Ile纯合基因型与风险增加无关。Ile/Ile纯合子发生双侧原发性乳腺癌的比值比为0.63（95%置信区间[CI]=0.34至1.13），对应于首次原发性乳腺癌的比值比为0.79（95%CI=0.58至1.06）。对本研究和其他已发表研究的荟萃分析显示，比值比估计值存在统计学上的显著异质性（P<0.001）。这种异质性可能反映了与功能变体的人群特异性连锁不平衡，或诸如人群分层或发表偏倚等假象。
