ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles |
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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 Breast Cancer Susceptibility Collaboration ,Easton Douglas F,Stratton Michael R,Rahman Nazneen |
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Affiliation: | Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK. |
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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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