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

@article{Renwick2006ATMMT,
  title={ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles},
  author={Anthony Renwick and Deborah J. Thompson and Sheila Seal and Patrick Kelly and Tasnim Chagtai and M. Ahmed and Bernard V. North and Hiran Jayatilake and Rita Barfoot and Katarina Spanova and Lesley McGuffog and D. Gareth R. Evans and Diana M. Eccles and Douglas F. Easton and Michael R. Stratton and Nazneen Rahman},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={873-875}
}
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… Expand
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TLDR
There is evidence that missense mutations in the ATM gene predispose to breast cancer, and these mutations were significantly elevated in women with breast cancer in two phases. Expand
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TLDR
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TLDR
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An increased incidence of breast carcinoma has been reported among relatives of individuals who are affected with the rare recessive disorder, ataxia‐telangiectasia (A‐T), and who are heterozygousExpand
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TLDR
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TLDR
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TLDR
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TLDR
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