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Rare variants in the ATM gene and risk of breast cancer

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Goldgar, D. E. ; Healey, S. ; Dowty, J. G. ; Da Silva, L. ; Chen, X. ; Spurdle, A. B. ; Terry, M. B. ; Daly, M. J. ; Buys, S. M. ; Southey, M. C. ; Andrulis, I. ; John, E. M. ; Khanna, K. K. ; Hopper, J. L. ; Oefner, Peter J. ; Lakhani, S. ; Chenevix-Trench, G.
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Date of publication of this fulltext: 04 Jul 2016 11:41


INTRODUCTION: The ataxia-telangiectasia mutated (ATM) gene (MIM ID 208900) encodes a protein kinase that plays a significant role in the activation of cellular responses to DNA double-strand breaks through subsequent phosphorylation of central players in the DNA damage-response pathway. Recent studies have confirmed that some specific variants in the ATM gene are associated with increased breast ...


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