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- Title
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.
- Authors
Renwick, Anthony; Thompson, Deborah; Seal, Sheila; Kelly, Patrick; Chagtai, Tasnim; Ahmed, Munaza; North, Bernard; Jayatilake, Hiran; Barfoot, Rita; Spanova, Katarina; McGuffog, Lesley; Evans, D Gareth; Eccles, Diana; Easton, Douglas F; Stratton, Michael R; Rahman, Nazneen; Breast Cancer Susceptibility Collaboration (UK)
- 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.
- Publication
Nature genetics, 2006, Vol 38, Issue 8, p873
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1837