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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. and Chenevix-Trench, G. (2005) Two ATM variants and breast cancer risk. Human Mutation 25 (6), pp. 594-595.

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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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Item type:Article
Date:6 May 2005
Institutions:Medicine > Institut für Funktionelle Genomik > Lehrstuhl für Funktionelle Genomik (Prof. Oefner)
Identification Number:
15880680PubMed ID
Keywords:AT; ATM; breast cancer; ataxia telangiectasia mutated; risk; variant
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:34348
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