ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
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- 9 July 2006
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 38 (8) , 873-875
- https://doi.org/10.1038/ng1837
Abstract
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.Keywords
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