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Feng H , Gusev A , Pasaniuc B , Wu L , Long J , Abu-Full Z , Aittomaki K , Andrulis IL , Anton-Culver H , Antoniou AC , Arason A , Arndt V , Aronson KJ , Arun BK , Asseryanis E , Auer PL , Azzollini J , Balmana J , Barkardottir RB , Barnes DR , Barrowdale D , Beckmann MW , Behrens S , Benitez J , Bermisheva M , Bialkowska K , Blanco A , Blomqvist C , Boeckx B , Bogdanova NV , Bojesen SE , Bolla MK , Bonanni B , Borg A , Brauch H , Brenner H , Briceno I , Broeks A , Bruning T , Burwinkel B , Cai Q , Caldes T , Caligo MA , Campbell I , Canisius S , Campa D , Carter BD , Carter J , Castelao JE , Chang-Claude J , Chanock SJ , Christiansen H , Chung WK , Claes KBM , Clarke CL , Couch FJ , Cox A , Cross SS , Cybulski C , Czene K , Daly MB , de la Hoya M , De Leeneer K , Dennis J , Devilee P , Diez O , Domchek SM , Dork T , Dos-Santos-Silva I , Dunning AM , Dwek M , Eccles DM , Ejlertsen B , Ellberg C , Engel C , Eriksson M , Fasching PA , Fletcher O , Flyger H , Fostira F , Friedman E , Fritschi L , Frost D , Gabrielson M , Ganz PA , Gapstur SM , Garber J , Garcia-Closas M , Garcia-Saenz JA , Gaudet MM , Giles GG , Glendon G , Godwin AK , Goldberg MS , Goldgar DE , Gonzalez-Neira A , Greene MH , Gronwald J , Guenel P , Haiman CA , Hall P , Hamann U , Hake C , He W , Heyworth J , Hogervorst FBL , Hollestelle A , Hooning MJ , Hoover RN , Hopper JL , Huang G , Hulick PJ , Humphreys K , Imyanitov EN , Isaacs C , Jakimovska M , Jakubowska A , James P , Janavicius R , Jankowitz RC , John EM , Johnson N , Joseph V , Jung A , Karlan BY , Khusnutdinova E , Kiiski JI , Konstantopoulou I , Kristensen VN , Laitman Y , Lambrechts D , Lazaro C , Leroux D , Leslie G , Lester J , Lesueur F , Lindor N , Lindstrom S , Lo WY , Loud JT , Lubinski J , Makalic E , Mannermaa A , Manoochehri M , Manoukian S , Margolin S , Martens JWM , Martinez ME , Matricardi L , Maurer T , Mavroudis D , McGuffog L , Meindl A , Menon U , Michailidou K , Kapoor PM , Miller A , Montagna M , Moreno F , Moserle L , Mulligan AM , Muranen TA , Nathanson KL , Neuhausen SL , Nevanlinna H , Nevelsteen I , Nielsen FC , Nikitina-Zake L , Offit K , Olah E , Olopade OI , Olsson H , Osorio A , Papp J , Park-Simon TW , Parsons MT , Pedersen IS , Peixoto A , Peterlongo P , Peto J , Pharoah PDP , Phillips KA , Plaseska-Karanfilska D , Poppe B , Pradhan N , Prajzendanc K , Presneau N , Punie K , Pylkas K , Radice P , Rantala J , Rashid MU , Rennert G , Risch HA , Robson M , Romero A , Saloustros E , Sandler DP , Santos C , Sawyer EJ , Schmidt MK , Schmidt DF , Schmutzler RK , Schoemaker MJ , Scott RJ , Sharma P , Shu XO , Simard J , Singer CF , Skytte AB , Soucy P , Southey MC , Spinelli JJ , Spurdle AB , Stone J , Swerdlow AJ , Tapper WJ , Taylor JA , Teixeira MR , Terry MB , Teule A , Thomassen M , Thone K , Thull DL , Tischkowitz M , Toland AE , Tollenaar Raem , Torres D , Truong T , Tung N , Vachon CM , van Asperen CJ , van den Ouweland AMW , van Rensburg EJ , Vega A , Viel A , Vieiro-Balo P , Wang Q , Wappenschmidt B , Weinberg CR , Weitzel JN , Wendt C , Winqvist R , Yang XR , Yannoukakos D , Ziogas A , Milne RL , Easton DF , Chenevix-Trench G , Zheng W , Kraft P , Jiang X
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status
Genet Epidemiol. 2020 Mar 1;44(5) :442-468
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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.
Notes
1098-2272 Feng, Helian Gusev, Alexander Pasaniuc, Bogdan Wu, Lang Long, Jirong Abu-Full, Zomoroda Aittomaki, 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 Bialkowska, 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 Caldes, 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 GEMO Study Collaborators EMBRACE Collaborators GC-HBOC study Collaborators 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 Guenel, 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 Hulick, Peter J Humphreys, Keith Imyanitov, Evgeny N ABCTB Investigators HEBON Investigators BCFR Investigators OCGN Investigators 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 Pylkas, 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 Thone, Kathrin Thull, Darcy L Tischkowitz, Marc Toland, Amanda E Tollenaar, Rob A E M Torres, Diana Truong, Therese Tung, Nadine Vachon, Celine M van Asperen, Christi J van den Ouweland, Ans M W van Rensburg, Elizabeth J 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 MC_PC_14105/MRC_/Medical Research Council/United Kingdom Journal Article United States Genet Epidemiol. 2020 Mar 1. doi: 10.1002/gepi.22288.