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

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. and Rahman, Nazneen , Breast Cancer Susceptibility Collaboration (UK) (2006) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nature Genetics, 38 (8), 873-875. (doi:10.1038/ng1837).

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.

This record has no associated files available for download.

Contributors

Author: Diana Eccles

Download statistics