학술논문
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Document Type
article
Author
Mueller, Stefanie H; Lai, Alvina G; Valkovskaya, Maria; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Lush, Michael; Abu-Ful, Zomoruda; Ahearn, Thomas U; Andrulis, Irene L; Anton-Culver, Hoda; Antonenkova, Natalia N; Arndt, Volker; Aronson, Kristan J; Augustinsson, Annelie; Baert, Thais; Freeman, Laura E Beane; Beckmann, Matthias W; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Blomqvist, Carl; Bogdanova, Natalia V; Bojesen, Stig E; Bonanni, Bernardo; Brenner, Hermann; Brucker, Sara Y; Buys, Saundra S; Castelao, Jose E; Chan, Tsun L; Chang-Claude, Jenny; Chanock, Stephen J; Choi, Ji-Yeob; Chung, Wendy K; Colonna, Sarah V; Cornelissen, Sten; Couch, Fergus J; Czene, Kamila; Daly, Mary B; Devilee, Peter; Dörk, Thilo; Dossus, Laure; Dwek, Miriam; Eccles, Diana M; Ekici, Arif B; Eliassen, A Heather; Engel, Christoph; Evans, D Gareth; Fasching, Peter A; Fletcher, Olivia; Flyger, Henrik; Gago-Dominguez, Manuela; Gao, Yu-Tang; García-Closas, Montserrat; García-Sáenz, José A; Genkinger, Jeanine; Gentry-Maharaj, Aleksandra; Grassmann, Felix; Guénel, Pascal; Gündert, Melanie; Haeberle, Lothar; Hahnen, Eric; Haiman, Christopher A; Håkansson, Niclas; Hall, Per; Harkness, Elaine F; Harrington, Patricia A; Hartikainen, Jaana M; Hartman, Mikael; Hein, Alexander; Ho, Weang-Kee; Hooning, Maartje J; Hoppe, Reiner; Hopper, John L; Houlston, Richard S; Howell, Anthony; Hunter, David J; Huo, Dezheng; Ito, Hidemi; Iwasaki, Motoki; Jakubowska, Anna; Janni, Wolfgang; John, Esther M; Jones, Michael E; Jung, Audrey; Kaaks, Rudolf; Kang, Daehee; Khusnutdinova, Elza K; Kim, Sung-Won; Kitahara, Cari M; Koutros, Stella; Kraft, Peter; Kristensen, Vessela N; Kubelka-Sabit, Katerina; Kurian, Allison W; Kwong, Ava; Lacey, James V; Lambrechts, Diether; Le Marchand, Loic
Source
Genome Medicine. 15(1)
Subject
Language
Abstract
BackgroundLow-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.MethodsWe 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. Gene-based associations were also combined in meta-analysis across individuals with European, Asian, African, and Latin American and Hispanic ancestry.ResultsIn European ancestry samples, 14 genes were significantly associated (q