Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

Show simple item record Feng, Helian Gusev, Alexander Pasaniuc, Bogdan Wu, Lang Long, Jirong Abu-full, Zomoroda Aittomäki, Kristiina Andrulis, Irene L. Anton-Culver, Hoda Antoniou, Antonis C. Arason, Adalgeir Arndt, Volker Aronson, Kristan J. Arun, Banu K. Asseryanis, Ella Auer, Paul L. Azzollini, Jacopo Balmana, Judith Barkardottir, Rosa B. Barnes, Daniel R. Barrowdale, Daniel Beckmann, Matthias W. Behrens, Sabine Benitez, Javier Bermisheva, Marina Białkowska, Katarzyna Blanco, Ana Blomqvist, Carl Boeckx, Bram Bogdanova, Natalia V. Bojesen, Stig E. Bolla, Manjeet K. Bonanni, Bernardo Borg, Ake Brauch, Hiltrud Brenner, Hermann Briceno, Ignacio Broeks, Annegien Bruning, Thomas Burwinkel, Barbara Cai, Qiuyin Caldés, Trinidad. Caligo, Maria A. Campbell, Ian Canisius, Sander Campa, Daniele Carter, Brian D. Carter, Jonathan Castelao, Jose E. Chang-Claude, Jenny Chanock, Stephen J. Christiansen, Hans Chung, Wendy K. Claes, Kathleen B.M. Clarke, Christine L. Couch, Fergus J. Cox, Angela Cross, Simon S. Cybulski, Cezary Czene, Kamila Daly, Mary B. De la Hoya, Miguel De Leeneer, Kim Dennis, Joe Devilee, Peter Diez, Orland Domchek, Susan M. Dork, Thilo Dos-Santos-Silva, Isabel Dunning, Alison M. Dwek, Miriam Eccles, Diana M. Ejlertsen, Bent Ellberg, Carolina Engel, Christoph Eriksson, Mikael Fasching, Peter A. Fletcher, Olivia Flyger, Henrik Fostira, Florentia Friedman, Eitan Fritschi, Lin Frost, Debra Gabrielson, Marike Ganz, Patricia A. Gapstur, Susan M. Garber, Judy Garcia-Closas, Montserrat Garcia-Saenz, Jose A. Gaudet, Mia M. Giles, Graham G. Glendon, Gord Godwin, Andrew K. Goldberg, Mark S. Goldgar, David E. Gonzalez-Neira, Anna Greene, Mark H. Gronwald, Jacek Guénel, Pascal Haiman, Christopher A. Hall, Per Hamann, Ute Hake, Christopher He, Wei Heyworth, Jane Hogervorst, Frans B.L. Hollestelle, Antoinette Hooning, Maartje J. Hoover, Robert N. Hopper, John L. Huang, Guanmengqian Humphreys, Keith Imyanitov, Evgeny N. Isaacs, Claudine Jakimovska, Milena Jakubowska, Anna James, Paul Janavicius, Ramunas Jankowitz, Rachel C. John, Esther M. Johnson, Nichola Joseph, Vijai Jung, Audrey Karlan, Beth Y. Khusnutdinova, Elza Kiiski, Johanna I. Konstantopoulou, Irene Kristensen, Vessela N. Laitman, Yael Lambrechts, Diether Lazaro, Conxi Leroux, Dominique Leslie, Goska Lester, Jenny Lesueur, Fabienne Lindor, Noralane Lindstrom, Sara Lo, Wing-Yee Loud, Jennifer T. Lubinski, Jan Makalic, Enes Mannermaa, Arto Manoochehri, Mehdi Manoukian, Siranoush Margolin, Sara Martens, John W.M. Martinez, Maria E. Matricardi, Laura Maurer, Tabea Mavroudis, Dimitrios McGuffog, Lesley Meindl, Alfons Menon, Usha Michailidou, Kyriaki Kapoor, Pooja M. Miller, Austin Montagna, Marco Moreno, Fernando Moserle, Lidia Mulligan, Anna M. Muranen, Taru A. Nathanson, Katherine L. Neuhausen, Susan L. Nevanlinna, Heli Nevelsteen, Ines Nielsen, Finn C. Nikitina-Zake, Liene Offit, Kenneth Olah, Edith Olopade, Olufunmilayo I. Olsson, Hakan Osorio, Ana Papp, Janos Park-Simon, Tjoung-Won Parsons, Michael T. Pedersen, Inge S. Peixoto, Ana Peterlongo, Paolo Peto, Julian Pharoah, Paul D.P. Phillips, Kelly-Anne Plaseska-Karanfilska, Dijana Poppe, Bruce Pradhan, Nisha Prajzendanc, Karolina Presneau, Nadege Punie, Kevin Pylkäs, Katri Radice, Paolo Rantala, Johanna Rashid, Muhammad Usman Rennert, Gad Risch, Harvey A. Robson, Mark Romero, Atocha Saloustros, Emmanouil Sandler, Dale P. Santos, Catarina Sawyer, Elinor J. Schmidt, Marjanka K. Schmidt, Daniel F. Schmutzler, Rita K. Schoemaker, Minouk J. Scott, Rodney J. Sharma, Priyanka Shu, Xiao-Ou Simard, Jacques Singer, Christian F. Skytte, Anne-Bine Soucy, Penny Southey, Melissa C. Spinelli, John J. Spurdle, Amanda B. Stone, Jennifer Swerdlow, Anthony J. Tapper, William J. Taylor, Jack A. Teixeira, Manuel R. Terry, Mary Beth Teule, Alex Thomassen, Mads Thöne, Kathrin Thull, Darcy L. Tischkowitz, Marc Toland, Amanda E. Tollenaar, Rob A.E.M. Torres, Diana Truong, Therese Tung, Nadine Vachon, Celine M. Van den Ouweland, Ans M.W. Van Asperen, Christi J. Jansen van Rensburg, Elizabeth Vega, Ana Viel, Alessandra Vieiro-Balo, Paula Wang, Qin Wappenschmidt, Barbara Weinberg, Clarice R. Weitzel, Jeffrey N. Wendt, Camilla Winqvist, Robert Yang, Xiaohong R. Yannoukakos, Drakoulis Ziogas, Argyrios Milne, Roger L. Easton., Douglas F. Chenevix-Trench, Georgia Zheng, Wei Kraft, Peter Jiang, Xia 2021-06-02T07:42:32Z 2021-06-02T07:42:32Z 2020-07
dc.description.abstract Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER−). We further compared associations with ER+ and ER− subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER− breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER− breast cancer. en_ZA
dc.description.department Genetics en_ZA
dc.description.librarian pm2021 en_ZA
dc.description.uri en_ZA
dc.identifier.citation Feng, H., Gusev, A., Pasaniuc, B. et al. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. Genetic Epidemiology 2020;44(5): 442-468. doi:10.1002/gepi.22288. en_ZA
dc.identifier.issn 0741-0395 (print)
dc.identifier.issn 1098-2272 (online)
dc.identifier.other 10.1002/gepi.22288
dc.language.iso en en_ZA
dc.publisher Wiley en_ZA
dc.rights © 2020 The Authors. Genetic Epidemiology published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License. en_ZA
dc.subject Breast cancer subtype en_ZA
dc.subject Causal gene en_ZA
dc.subject Transcriptome-wide association studies (TWAS) en_ZA
dc.subject Genome-wide association studies (GWAS) en_ZA
dc.title Transcriptome-wide association study of breast cancer risk by estrogen-receptor status en_ZA
dc.type Article en_ZA

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