Nature Genetics 38, 873 - 875 (2006)
Published online: 9 July 2006; | doi:10.1038/ng1837
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility allelesAnthony Renwick1, Deborah Thompson2, Sheila Seal1, Patrick Kelly1, Tasnim Chagtai1, Munaza Ahmed1, Bernard North1, Hiran Jayatilake1, Rita Barfoot1, Katarina Spanova1, Lesley McGuffog2, D Gareth Evans3, Diana Eccles4, Douglas F Easton2, Michael R Stratton1, 5, The Breast Cancer Susceptibility
Collaboration (UK) & Nazneen Rahman11
Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK. 2
Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, CB1 8RN, UK. 3
Department of Medical Genetics, St Mary's Hospital, Manchester, M13 0JH, UK. 4
Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, SO16 6YA, UK. 5
Cancer Genome Project, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
Correspondence should be addressed to Nazneen Rahman nazneen.rahman@icr.ac.uk 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.
MORE ARTICLES LIKE THIS These links to content published by NPG are automatically generated.
|
