학술논문
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Document Type
article
Author
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; NBCS Collaborators; Sarah V. Colonna; CTS Consortium; 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; ABCTB Investigators; 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
Source
Genome Medicine, Vol 15, Iss 1, Pp 1-18 (2023)
Subject
Language
English
ISSN
1756-994X
Abstract
Abstract 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. Gene-based associations were also combined in meta-analysis across individuals with European, Asian, African, and Latin American and Hispanic ancestry. Results In European ancestry samples, 14 genes were significantly associated (q