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Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer

Tavtigian, Sean V. ; Oefner, Peter J. ; Babikyan, Davit ; Hartmann, Anne ; Healey, Sue ; Le Calvez-Kelm, Florence ; Lesueur, Fabienne ; Byrnes, Graham B. ; Chuang, Shu-Chun ; Forey, Nathalie ; Feuchtinger, Corinna ; Gioia, Lydie ; Hall, Janet ; Hashibe, Mia ; Herte, Barbara ; McKay-Chopin, Sandrine ; Thomas, Alun ; Vallée, Maxime P. ; Voegele, Catherine ; Webb, Penelope M. ; Whiteman, David C. ; Sangrajrang, Suleeporn ; Hopper, John L. ; Southey, Melissa C. ; Andrulis, Irene L. ; John, Esther M. ; Chenevix-Trench, Georgia


The susceptibility gene for ataxia telangiectasia, ATM, is also an intermediate-risk breast-cancer-susceptibility gene. However, the spectrum and frequency distribution of ATM mutations that confer increased risk of breast cancer have been controversial. To assess the contribution of rare variants in this gene to risk of breast cancer, we pooled data from seven published ATM case-control ...


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