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Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling

Waddell, N. ; Jonnalagadda, J. ; Marsh, A. ; Grist, S. ; Jenkins, M. ; Hobson, K. ; Taylor, M. ; Lindeman, G. J. ; Tavtigian, S. V. ; Suthers, G. ; Goldgar, D. ; Oefner, Peter J. ; Taylor, D. ; Grimmond, S. ; Khanna, K. K. ; Chenevix-Trench, G.



Abstract

Mutations in ATM are responsible for the autosomal recessive disorder ataxia telangiectasia. Heterozygous mutations in ATM have been associated with an elevated risk of breast cancer. We previously reported one breast cancer family in which ATM 7271T>G (V2424G) segregated with disease, and apparently acted in a dominant negative manner. We now report the screening of 782 multiple-case breast ...

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