Stefanie H Mueller, Alvina G Lai, Maria Valkovskaya, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Michael Lush, Zomoruda Abu-Ful, Thomas U Ahearn, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Annelie Augustinsson, Thais Baert, Laura E Beane Freeman, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Bernardo Bonanni, Hermann Brenner, Sara Y Brucker, Saundra S Buys, Jose E Castelao, Tsun L Chan, Jenny Chang-Claude, Stephen J Chanock, Ji-Yeob Choi, Wendy K Chung, Sarah V Colonna, Sten Cornelissen, Fergus J Couch, Kamila Czene, Mary B Daly, Peter Devilee, Thilo Dörk, Laure Dossus, Miriam Dwek, Diana M Eccles, Arif B Ekici, A Heather Eliassen, Christoph Engel, D Gareth Evans, Peter A Fasching, Olivia Fletcher, Henrik Flyger, Manuela Gago-Dominguez, Yu-Tang Gao, Montserrat García-Closas, José A García-Sáenz, Jeanine Genkinger, Aleksandra Gentry-Maharaj, Felix Grassmann, Pascal Guénel, Melanie Gündert, Lothar Haeberle, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Per Hall, Elaine F Harkness, Patricia A Harrington, Jaana M Hartikainen, Mikael Hartman, Alexander Hein, Weang-Kee Ho, Maartje J Hooning, Reiner Hoppe, John L Hopper, Richard S Houlston, Anthony Howell, David J Hunter, Dezheng Huo, Hidemi Ito, Motoki Iwasaki, Anna Jakubowska, Wolfgang Janni, Esther M John, Michael E Jones, Audrey Jung, Rudolf Kaaks, Daehee Kang, Elza K Khusnutdinova, Sung-Won Kim, Cari M Kitahara, Stella Koutros, Peter Kraft, Vessela N Kristensen, Katerina Kubelka-Sabit, Allison W Kurian, Ava Kwong, James V Lacey, Diether Lambrechts, Loic Le Marchand, Jingmei Li, Martha Linet, Wing-Yee Lo, Jirong Long, Artitaya Lophatananon, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Keitaro Matsuo, Dimitrios Mavroudis, Usha Menon, Kenneth Muir, Rachel A Murphy, Heli Nevanlinna, William G Newman, Dieter Niederacher, Katie M O'Brien, Nadia Obi, Kenneth Offit, Olufunmilayo I Olopade, Andrew F Olshan, Håkan Olsson, Sue K Park, Alpa V Patel, Achal Patel, Charles M Perou, Julian Peto, Paul D P Pharoah, Dijana Plaseska-Karanfilska, Nadege Presneau, Brigitte Rack, Paolo Radice, Dhanya Ramachandran, Muhammad U Rashid, Gad Rennert, Atocha Romero, Kathryn J Ruddy, Matthias Ruebner, Emmanouil Saloustros, Dale P Sandler, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Michael O Schneider, Christopher Scott, Mitul Shah, Priyanka Sharma, Chen-Yang Shen, Xiao-Ou Shu, Jacques Simard, Harald Surowy, Rulla M Tamimi, William J Tapper, Jack A Taylor, Soo Hwang Teo, Lauren R Teras, Amanda E Toland, Rob A E M Tollenaar, Diana Torres, Gabriela Torres-Mejía, Melissa A Troester, Thérèse Truong, Celine M Vachon, Joseph Vijai, Clarice R Weinberg, Camilla Wendt, Robert Winqvist, Alicja Wolk, Anna H Wu, Taiki Yamaji, Xiaohong R Yang, Jyh-Cherng Yu, Wei Zheng, Argyrios Ziogas, Elad Ziv, Alison M Dunning, Douglas F Easton, Harry Hemingway, Ute Hamann, Karoline B Kuchenbaecker
BACKGROUND: Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes. METHODS: We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls. Low-frequency variants were aggregated for individual genes' coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort...
January 26, 2023: Genome Medicine