Article
Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.
Breast cancer research : BCR - 3 Jun 2014
Damiola Francesca, Pertesi Maroulio, Oliver Javier, Le Calvez-Kelm Florence, Voegele Catherine, Young Erin L, Robinot Nivonirina, Forey Nathalie, Durand Geoffroy, Vallée Maxime P, Tao Kayoko, Roane Terrell C, Williams Gareth J, Hopper John L, Southey Melissa C, Andrulis Irene L, John Esther M, Goldgar David E, Lesueur Fabienne, Tavtigian Sean V
Abstract excerpt
INTRODUCTION: The MRE11A-RAD50-Nibrin (MRN) complex plays several critical roles related to repair of DNA double-strand breaks. Inherited mutations in the three components predispose to genetic instability disorders and the MRN genes have been implicated in breast cancer susceptibility, but the underlying data are not entirely convincing. Here, we address two related questions: (1) are some rare MRN variants...
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