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 
;
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 ;
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
;
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 ;
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
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.
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