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

doi:10.1016/j.ajhg.2009.08.018

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

American journal of human genetics - 1 Oct 2009

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

Abstract excerpt

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 mutation-screening...

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PMID: 19781682
DOI: 10.1016/j.ajhg.2009.08.018
PMCID: PMC2756555

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