Article
Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.
Breast cancer research : BCR - 18 Jan 2011
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
Abstract excerpt
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. This absence has been due in part to a lack of validated statistical methods for summarizing risk attributable to...
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