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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

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 unde...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4229874/
https://www.ncbi.nlm.nih.gov/pubmed/24894818
http://dx.doi.org/10.1186/bcr3669