NBS1 variant I171V and breast cancer risk
NBS1 variant I171V and breast cancer risk
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DOI：
10.1007/s10549-007-9820-4
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发表时间：
2008-11-01
影响因子：
3.8
通讯作者：
Doerk, Thilo
中科院分区：
文献类型：
--
作者：
Bogdanova, Natalia;Schuermann, Peter;Doerk, Thilo
NBS1/p95蛋白在染色体断裂的感知和修复中起关键作用。最近发现，NBS1基因I171V的错义突变与波兰患者患乳腺癌的风险增加9倍有关。白血病和喉癌也有阳性关联的报道，这表明I171V可能是恶性肿瘤更普遍的易感因素。我们在来自德国和白俄罗斯共和国的两个大型医院病例对照系列中调查了这种突变的流行情况。在20/ 1636名白俄罗斯乳腺癌患者和18/ 1014名白俄罗斯对照组中检测到I171V替代（OR: 0.68; 95%CI: 0.36-1.30, P = 0.3）。在10/ 1048名德国乳腺癌患者和7/ 1017名德国对照组中进一步检测到I171V替代（OR: 1.39; 95%CI: 0.53-3.67, P = 0.7）。I171V携带者与非携带者在诊断年龄、家族史、双侧发病等方面无显著差异。对迄今为止所有可用研究的荟萃分析未显示乳腺癌病例和对照组之间I171V患病率的差异（OR: 1.05; 95%CI: 0.64-1.74, P = 0.9）。我们的结论是，在我们的研究人群中，I171V替代不太可能构成乳腺癌的强烈危险因素。
The NBS1/p95 protein has a pivotal role in the sensing and repair of chromosome breaks. A missense mutation in the NBS1 gene, I171V, has recently been associated with a ninefold increased risk of breast cancer in Polish patients. Positive associations have also been reported for leukaemia and larynx cancer suggesting that I171V could be a more general susceptibility factor for malignancies. We investigated the prevalence of this mutation in two large hospital-based case-control series from Germany and from the Republic of Belarus. The I171V substitution was detected in 20/1,636 Byelorussian breast cancer patients and in 18/1,014 Byelorussian controls (OR: 0.68; 95%CI: 0.36-1.30, P = 0.3). The I171V substitution was furthermore detected in 10/1,048 German breast cancer patients and in 7/1,017 German controls (OR: 1.39; 95%CI: 0.53-3.67, P = 0.7). There were no significant differences between I171V carriers and non-carriers among the cases with regard to age at diagnosis, family history or bilateral occurrence of disease. A meta-analysis of all hitherto available studies did not reveal a difference in the prevalence of I171V between breast cancer cases and controls (OR: 1.05; 95%CI: 0.64-1.74, P = 0.9). We conclude that the I171V substitution is unlikely to constitute a strong risk factor for breast cancer in our study populations.