作者
Haoyu Zhang, Thomas U Ahearn, Julie Lecarpentier, Daniel Barnes, Jonathan Beesley, Guanghao Qi, Xia Jiang, Tracy A O’Mara, Ni Zhao, Manjeet K Bolla, Alison M Dunning, Joe Dennis, Qin Wang, Zumuruda Abu Ful, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J Aronson, Banu K Arun, Paul L Auer, Jacopo Azzollini, Daniel Barrowdale, Heiko Becher, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Katarzyna Bialkowska, Ana Blanco, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Bernardo Bonanni, Davide Bondavalli, Ake Borg, Hiltrud Brauch, Hermann Brenner, Ignacio Briceno, Annegien Broeks, Sara Y Brucker, Thomas Brüning, Barbara Burwinkel, Saundra S Buys, Helen Byers, Trinidad Caldés, Maria A Caligo, Mariarosaria Calvello, Daniele Campa, Jose E Castelao, Jenny Chang-Claude, Stephen J Chanock, Melissa Christiaens, Hans Christiansen, Wendy K Chung, Kathleen BM Claes, Christine L Clarke, Sten Cornelissen, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Mary B Daly, Peter Devilee, Orland Diez, Susan M Domchek, Thilo Dörk, Miriam Dwek, Diana M Eccles, Arif B Ekici, D Gareth Evans, Peter A Fasching, Jonine Figueroa, Lenka Foretova, Florentia Fostira, Eitan Friedman, Debra Frost, Manuela Gago-Dominguez, Susan M Gapstur, Judy Garber, José A García-Sáenz, Mia M Gaudet, Simon A Gayther, Graham G Giles, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Mark H Greene, Jacek Gronwald, Pascal Guénel, Lothar Häberle, Eric Hahnen, Christopher A Haiman, Christopher R Hake, Per Hall, Ute Hamann, Elaine F Harkness, Bernadette AM Heemskerk-Gerritsen, Peter Hillemanns, Frans BL Hogervorst, Bernd Holleczek, Antoinette Hollestelle, Maartje J Hooning, Robert N Hoover, John L Hopper, Anthony Howell, Hanna Huebner, Peter J Hulick, Evgeny N Imyanitov, kConFab Investigators, ABCTB Investigators, Claudine Isaacs, Louise Izatt, Agnes Jager, Milena Jakimovska, Anna Jakubowska, Paul James, Ramunas Janavicius, Wolfgang Janni, Esther M John, Michael E Jones, Audrey Jung, Rudolf Kaaks, Pooja Middha Kapoor, Beth Y Karlan, Renske Keeman, Sofia Khan, Elza Khusnutdinova, Cari M Kitahara, Yon-Dschun Ko, Irene Konstantopoulou, Linetta B Koppert, Stella Koutros, Vessela N Kristensen, Anne-Vibeke Laenkholm, Diether Lambrechts, Susanna C Larsson, Pierre Laurent-Puig, Conxi Lazaro, Emilija Lazarova, Flavio Lejbkowicz, Goska Leslie, Fabienne Lesueur, Annika Lindblom, Jolanta Lissowska, Wing-Yee Lo, Jennifer T Loud, Jan Lubinski, Alicja Lukomska
发表日期
2020/6
期刊
Nature genetics
卷号
52
期号
6
页码范围
572-581
出版商
Nature Publishing Group US
简介
Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype, –. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P < 5.0 × 10−8), 15 of which showed evidence for associations with at least one tumor feature (false discovery rate < 0.05). Five loci showed associations (P < 0.05) in opposite directions between luminal and non-luminal subtypes. In silico analyses showed that these five loci contained cell-specific enhancers that differed between normal …
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