Naomi Wilcox, Martine Dumont, Anna González-Neira, Sara Carvalho, Charles Joly Beauparlant, Marco Crotti, Craig Luccarini, Penny Soucy, Stéphane Dubois, Rocio Nuñez-Torres, Guillermo Pita, Eugene J Gardner, Joe Dennis, M Rosario Alonso, Nuria Álvarez, Caroline Baynes, Annie Claude Collin-Deschesnes, Sylvie Desjardins, Heiko Becher, Sabine Behrens, Manjeet K Bolla, Jose E Castelao, Jenny Chang-Claude, Sten Cornelissen, Thilo Dörk, Christoph Engel, Manuela Gago-Dominguez, Pascal Guénel, Andreas Hadjisavvas, Eric Hahnen, Mikael Hartman, Belén Herráez, Audrey Jung, Renske Keeman, Marion Kiechle, Jingmei Li, Maria A Loizidou, Michael Lush, Kyriaki Michailidou, Mihalis I Panayiotidis, Xueling Sim, Soo Hwang Teo, Jonathan P Tyrer, Lizet E van der Kolk, Cecilia Wahlström, Qin Wang, John R B Perry, Javier Benitez, Marjanka K Schmidt, Rita K Schmutzler, Paul D P Pharoah, Arnaud Droit, Alison M Dunning, Anders Kvist, Peter Devilee, Douglas F Easton, Jacques Simard
Linkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast cancer is unclear. To evaluate the role of rare coding variants more comprehensively, we performed a meta-analysis across three large whole-exome sequencing datasets, containing 26,368 female cases and 217,673 female controls. Burden tests were performed for protein-truncating and rare missense variants in 15,616 and 18,601 genes, respectively. Associations between protein-truncating variants and breast cancer were identified for the following six genes at exome-wide significance (P < 2...
September 2023: Nature Genetics