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

Helian Feng ; Alexander Gusev ; Bogdan Pasaniuc ; Lang Wu ; Jirong Long ; Zomoroda Abu-Full ; Kristiina Aittomäki ; Irene L Andrulis ; Hoda Anton-Culver ; Antonis C Antoniou ; +249 more... Adalgeir Arason ; Volker Arndt ; Kristan J Aronson ; Banu K Arun ; Ella Asseryanis ; Paul L Auer ; Jacopo Azzollini ; Judith Balmaña ; Rosa B Barkardottir ; Daniel R Barnes ; Daniel Barrowdale ; Matthias W Beckmann ; Sabine Behrens ; Javier Benitez ; Marina Bermisheva ; Katarzyna Białkowska ; Ana Blanco ; Carl Blomqvist ; Bram Boeckx ; Natalia V Bogdanova ; Stig E Bojesen ; Manjeet K Bolla ; Bernardo Bonanni ; Ake Borg ; Hiltrud Brauch ; Hermann Brenner ; Ignacio Briceno ; Annegien Broeks ; Thomas Brüning ; Barbara Burwinkel ; Qiuyin Cai ; Trinidad Caldés ; Maria A Caligo ; Ian Campbell ; Sander Canisius ; Daniele Campa ; Brian D Carter ; Jonathan Carter ; Jose E Castelao ; Jenny Chang-Claude ; Stephen J Chanock ; Hans Christiansen ; Wendy K Chung ; Kathleen BM Claes ; Christine L Clarke ; GEMO Study Collaborators ; EMBRACE Collaborators ; GC-HBOC study Collaborators ; Fergus J Couch ; Angela Cox ; Simon S Cross ; Cezary Cybulski ; Kamila Czene ; Mary B Daly ; Miguel de la Hoya ; Kim De Leeneer ; Joe Dennis ; Peter Devilee ; Orland Diez ; Susan M Domchek ; Thilo Dörk ; Isabel Dos-Santos-Silva ORCID logo ; Alison M Dunning ; Miriam Dwek ; Diana M Eccles ; Bent Ejlertsen ; Carolina Ellberg ; Christoph Engel ; Mikael Eriksson ; Peter A Fasching ; Olivia Fletcher ; Henrik Flyger ; Florentia Fostira ; Eitan Friedman ; Lin Fritschi ; Debra Frost ; Marike Gabrielson ; Patricia A Ganz ; Susan M Gapstur ; Judy Garber ; Montserrat García-Closas ; José A García-Sáenz ; Mia M Gaudet ; Graham G Giles ; Gord Glendon ; Andrew K Godwin ; Mark S Goldberg ; David E Goldgar ; Anna González-Neira ; Mark H Greene ; Jacek Gronwald ; Pascal Guénel ; Christopher A Haiman ; Per Hall ; Ute Hamann ; Christopher Hake ; Wei He ; Jane Heyworth ; Frans BL Hogervorst ; Antoinette Hollestelle ; Maartje J Hooning ; Robert N Hoover ; John L Hopper ; Guanmengqian Huang ; Peter J Hulick ; Keith Humphreys ; Evgeny N Imyanitov ; ABCTB Investigators ; HEBON Investigators ; BCFR Investigators ; OCGN Investigators ; Claudine Isaacs ; Milena Jakimovska ; Anna Jakubowska ; Paul James ; Ramunas Janavicius ; Rachel C Jankowitz ; Esther M John ; Nichola Johnson ; Vijai Joseph ; Audrey Jung ; Beth Y Karlan ; Elza Khusnutdinova ; Johanna I Kiiski ; Irene Konstantopoulou ; Vessela N Kristensen ; Yael Laitman ; Diether Lambrechts ; Conxi Lazaro ; Dominique Leroux ; Goska Leslie ; Jenny Lester ; Fabienne Lesueur ; Noralane Lindor ; Sara Lindström ; Wing-Yee Lo ; Jennifer T Loud ; Jan Lubiński ; Enes Makalic ; Arto Mannermaa ; Mehdi Manoochehri ; Siranoush Manoukian ; Sara Margolin ; John WM Martens ; Maria E Martinez ; Laura Matricardi ; Tabea Maurer ; Dimitrios Mavroudis ; Lesley McGuffog ; Alfons Meindl ; Usha Menon ; Kyriaki Michailidou ; Pooja M Kapoor ; Austin Miller ; Marco Montagna ; Fernando Moreno ; Lidia Moserle ; Anna M Mulligan ; Taru A Muranen ; Katherine L Nathanson ; Susan L Neuhausen ; Heli Nevanlinna ; Ines Nevelsteen ; Finn C Nielsen ; Liene Nikitina-Zake ; Kenneth Offit ; Edith Olah ; Olufunmilayo I Olopade ; Håkan Olsson ; Ana Osorio ; Janos Papp ; Tjoung-Won Park-Simon ; Michael T Parsons ; Inge S Pedersen ; Ana Peixoto ; Paolo Peterlongo ; Julian Peto ORCID logo ; Paul DP Pharoah ; Kelly-Anne Phillips ; Dijana Plaseska-Karanfilska ; Bruce Poppe ; Nisha Pradhan ; Karolina Prajzendanc ; Nadege Presneau ; Kevin Punie ; Katri Pylkäs ; Paolo Radice ; Johanna Rantala ; Muhammad Usman Rashid ; Gad Rennert ; Harvey A Risch ; Mark Robson ; Atocha Romero ; Emmanouil Saloustros ; Dale P Sandler ; Catarina Santos ; Elinor J Sawyer ; Marjanka K Schmidt ; Daniel F Schmidt ; Rita K Schmutzler ; Minouk J Schoemaker ; Rodney J Scott ; Priyanka Sharma ; Xiao-Ou Shu ; Jacques Simard ; Christian F Singer ; Anne-Bine Skytte ; Penny Soucy ; Melissa C Southey ; John J Spinelli ; Amanda B Spurdle ; Jennifer Stone ; Anthony J Swerdlow ; William J Tapper ; Jack A Taylor ; Manuel R Teixeira ; Mary Beth Terry ; Alex Teulé ; Mads Thomassen ; Kathrin Thöne ; Darcy L Thull ; Marc Tischkowitz ; Amanda E Toland ; Rob AEM Tollenaar ; Diana Torres ; Thérèse Truong ; Nadine Tung ; Celine M Vachon ; Christi J van Asperen ; Ans MW van den Ouweland ; Elizabeth J van Rensburg ; Ana Vega ; Alessandra Viel ; Paula Vieiro-Balo ; Qin Wang ; Barbara Wappenschmidt ; Clarice R Weinberg ; Jeffrey N Weitzel ; Camilla Wendt ; Robert Winqvist ; Xiaohong R Yang ; Drakoulis Yannoukakos ; Argyrios Ziogas ; Roger L Milne ; Douglas F Easton ; Georgia Chenevix-Trench ; Wei Zheng ; Peter Kraft ; Xia Jiang ; ABCTB Investigators, BCFR Investigators, OCGN Investigators, GEMO Study Collaborators, EMBRACE Collaborators, GC-HBOC study Collaborators; (2020) Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. GENETIC EPIDEMIOLOGY, 44 (5). pp. 442-468. ISSN 0741-0395 DOI: 10.1002/gepi.22288
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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.
Item Type Article
Elements ID 145375
Date Deposited 07 Apr 2021 12:13

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