Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study

INTRODUCTION: Both protein-truncating variants and some missense substitutions in CHEK2 confer increased risk of breast cancer. However, no large-scale study has used full open reading frame mutation screening to assess the contribution of rare missense substitutions in CHEK2 to breast cancer risk....

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Главные авторы: Le Calvez-Kelm, Florence, Lesueur, Fabienne, Damiola, Francesca, Vallée, Maxime, Voegele, Catherine, Babikyan, Davit, Durand, Geoffroy, Forey, Nathalie, McKay-Chopin, Sandrine, Robinot, Nivonirina, Nguyen-Dumont, Tù, Thomas, Alun, Byrnes, Graham B, Hopper, John L, Southey, Melissa C, Andrulis, Irene L, John, Esther M, Tavtigian, Sean V
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2011
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3109572/
https://ncbi.nlm.nih.gov/pubmed/21244692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/bcr2810
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