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Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry

Dumont, Martine ; Weber-Lassalle, Nana ; Joly-Beauparlant, Charles ; Ernst, Corinna ; Droit, Arnaud ; Feng, Bing-Jian ; Dubois, Stéphane ; Collin-Deschesnes, Annie-Claude ; Soucy, Penny ; Vallée, Maxime ; Fournier, Frédéric ; Lemaçon, Audrey ; Adank, Muriel A. ; Allen, Jamie ; Altmüller, Janine ; Arnold, Norbert ; Ausems, Margreet G. E. M. ; Berutti, Riccardo ; Bolla, Manjeet K. ; Bull, Shelley ; Carvalho, Sara ; Cornelissen, Sten ; Dufault, Michael R. ; Dunning, Alison M. ; Engel, Christoph ; Gehrig, Andrea ; Geurts-Giele, Willemina R. R. ; Gieger, Christian ; Green, Jessica ; Hackmann, Karl ; Helmy, Mohamed ; Hentschel, Julia ; Hogervorst, Frans B. L. ; Hollestelle, Antoinette ; Hooning, Maartje J. ; Horváth, Judit ; Ikram, M. Arfan ; Kaulfuß, Silke ; Keeman, Renske ; Kuang, Da ; Luccarini, Craig ; Maier, Wolfgang ; Martens, John W. M. ; Niederacher, Dieter ; Nürnberg, Peter ; Ott, Claus-Eric ; Peters, Annette ; Pharoah, Paul D. P. ; Ramirez, Alfredo ; Ramser, Juliane ; Riedel-Heller, Steffi ; Schmidt, Gunnar ; Shah, Mitul ; Scherer, Martin ; Stäbler, Antje ; Strom, Tim M. ; Sutter, Christian ; Thiele, Holger ; van Asperen, Christi J. ; van der Kolk, Lizet ; van der Luijt, Rob B. ; Volk, Alexander E. ; Wagner, Michael ; Waisfisz, Quinten ; Wang, Qin ; Wang-Gohrke, Shan ; Weber, Bernhard H. F. ; Devilee, Peter ; Tavtigian, Sean ; Bader, Gary D. ; Meindl, Alfons ; Goldgar, David E. ; Andrulis, Irene L. ; Schmutzler, Rita K. ; Easton, Douglas F. ; Schmidt, Marjanka K. ; Hahnen, Eric ; Simard, Jacques



Abstract

Simple Summary Genetic variants explaining approximately 40% of familial breast cancer risk have been identified, thus leaving a significant fraction of the heritability of this disease still unexplained. The exact nature of this missing fraction is unknown; more extensive sequencing efforts could potentially identify new moderate-penetrance breast cancer risk alleles. The aim of this study was ...

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