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Two ATM variants and breast cancer risk

Thompson, D. ; Antoniou, A. C. ; Jenkins, M. ; Marsh, A. ; Chen, X. ; Wayne, T. ; Tesoriero, A. ; Milne, R. ; Spurdle, A. ; Thorstenson, Y. ; Southey, M. ; Giles, G. G. ; Khanna, K. K. ; Sambrook, J. ; Oefner, Peter J. ; Goldgar, D. ; Hopper, J. L. ; Easton, D. ; Chenevix-Trench, G.



Abstract

The ATM gene is mutated in ataxia-telangiectasia (AT). Heterozygote female relatives of AT cases have a 2-7fold increased risk of breast cancer. We previously reported high risks of breast cancer associated with certain ATM variants. To estimate the risks more precisely, we have examined two ATM variants, c.1066-6T>G (IVS10-6T>G) and c.4258C>T (p.Leu1420Phe), in additional cases and controls from ...

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