ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
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DOI：
10.1038/ng1837
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发表时间：
2006-08-01
期刊：
影响因子：
30.8
通讯作者：
Rahman, Nazneen
中科院分区：
文献类型：
--
作者：
Renwick, Anthony;Thompson, Deborah;Rahman, Nazneen
我们从443个家族性乳腺癌家系和521个对照中筛选ATM序列变异，并在受影响的个体中确定了12个突变，在对照中确定了2个突变（P = 0.0047）。结果表明，在双等位基因携带者中引起共济失调-毛细血管扩张症的ATM突变是单等位基因携带者中的乳腺癌易感等位基因，估计相对风险为2.37（95%置信区间（c.i.）= 1.51 - 3.78，P = 0.0003）。没有证据表明其他类型的ATM变异会增加患乳腺癌的风险。
We screened individuals from 443 familial breast cancer pedigrees and 521 controls for ATM sequence variants and identified 12 mutations in affected individuals and two in controls (P = 0.0047). The results demonstrate that ATM mutations that cause ataxia-telangiectasia in biallelic carriers are breast cancer susceptibility alleles in monoallelic carriers, with an estimated relative risk of 2.37 (95% confidence interval (c.i.) = 1.51 - 3.78, P = 0.0003). There was no evidence that other classes of ATM variant confer a risk of breast cancer.