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      ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

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          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.

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          Author and article information

          Journal
          Nature Genetics
          Nat Genet
          Springer Science and Business Media LLC
          1061-4036
          1546-1718
          August 2006
          July 9 2006
          August 2006
          : 38
          : 8
          : 873-875
          Article
          10.1038/ng1837
          16832357
          d90074cb-99a1-4d28-8642-87cc068ed4ee
          © 2006

          http://www.springer.com/tdm

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