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

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dc.contributor.author Feng, Helian
dc.contributor.author Gusev, Alexander
dc.contributor.author Pasaniuc, Bogdan
dc.contributor.author Wu, Lang
dc.contributor.author Long, Jirong
dc.contributor.author Abu-full, Zomoroda
dc.contributor.author Aittomäki, Kristiina
dc.contributor.author Andrulis, Irene L.
dc.contributor.author Anton-Culver, Hoda
dc.contributor.author Antoniou, Antonis C.
dc.contributor.author Arason, Adalgeir
dc.contributor.author Arndt, Volker
dc.contributor.author Aronson, Kristan J.
dc.contributor.author Arun, Banu K.
dc.contributor.author Asseryanis, Ella
dc.contributor.author Auer, Paul L.
dc.contributor.author Azzollini, Jacopo
dc.contributor.author Balmana, Judith
dc.contributor.author Barkardottir, Rosa B.
dc.contributor.author Barnes, Daniel R.
dc.contributor.author Barrowdale, Daniel
dc.contributor.author Beckmann, Matthias W.
dc.contributor.author Behrens, Sabine
dc.contributor.author Benitez, Javier
dc.contributor.author Bermisheva, Marina
dc.contributor.author Białkowska, Katarzyna
dc.contributor.author Blanco, Ana
dc.contributor.author Blomqvist, Carl
dc.contributor.author Boeckx, Bram
dc.contributor.author Bogdanova, Natalia V.
dc.contributor.author Bojesen, Stig E.
dc.contributor.author Bolla, Manjeet K.
dc.contributor.author Bonanni, Bernardo
dc.contributor.author Borg, Ake
dc.contributor.author Brauch, Hiltrud
dc.contributor.author Brenner, Hermann
dc.contributor.author Briceno, Ignacio
dc.contributor.author Broeks, Annegien
dc.contributor.author Bruning, Thomas
dc.contributor.author Burwinkel, Barbara
dc.contributor.author Cai, Qiuyin
dc.contributor.author Caldés, Trinidad.
dc.contributor.author Caligo, Maria A.
dc.contributor.author Campbell, Ian
dc.contributor.author Canisius, Sander
dc.contributor.author Campa, Daniele
dc.contributor.author Carter, Brian D.
dc.contributor.author Carter, Jonathan
dc.contributor.author Castelao, Jose E.
dc.contributor.author Chang-Claude, Jenny
dc.contributor.author Chanock, Stephen J.
dc.contributor.author Christiansen, Hans
dc.contributor.author Chung, Wendy K.
dc.contributor.author Claes, Kathleen B.M.
dc.contributor.author Clarke, Christine L.
dc.contributor.author Couch, Fergus J.
dc.contributor.author Cox, Angela
dc.contributor.author Cross, Simon S.
dc.contributor.author Cybulski, Cezary
dc.contributor.author Czene, Kamila
dc.contributor.author Daly, Mary B.
dc.contributor.author De la Hoya, Miguel
dc.contributor.author De Leeneer, Kim
dc.contributor.author Dennis, Joe
dc.contributor.author Devilee, Peter
dc.contributor.author Diez, Orland
dc.contributor.author Domchek, Susan M.
dc.contributor.author Dork, Thilo
dc.contributor.author Dos-Santos-Silva, Isabel
dc.contributor.author Dunning, Alison M.
dc.contributor.author Dwek, Miriam
dc.contributor.author Eccles, Diana M.
dc.contributor.author Ejlertsen, Bent
dc.contributor.author Ellberg, Carolina
dc.contributor.author Engel, Christoph
dc.contributor.author Eriksson, Mikael
dc.contributor.author Fasching, Peter A.
dc.contributor.author Fletcher, Olivia
dc.contributor.author Flyger, Henrik
dc.contributor.author Fostira, Florentia
dc.contributor.author Friedman, Eitan
dc.contributor.author Fritschi, Lin
dc.contributor.author Frost, Debra
dc.contributor.author Gabrielson, Marike
dc.contributor.author Ganz, Patricia A.
dc.contributor.author Gapstur, Susan M.
dc.contributor.author Garber, Judy
dc.contributor.author Garcia-Closas, Montserrat
dc.contributor.author Garcia-Saenz, Jose A.
dc.contributor.author Gaudet, Mia M.
dc.contributor.author Giles, Graham G.
dc.contributor.author Glendon, Gord
dc.contributor.author Godwin, Andrew K.
dc.contributor.author Goldberg, Mark S.
dc.contributor.author Goldgar, David E.
dc.contributor.author Gonzalez-Neira, Anna
dc.contributor.author Greene, Mark H.
dc.contributor.author Gronwald, Jacek
dc.contributor.author Guénel, Pascal
dc.contributor.author Haiman, Christopher A.
dc.contributor.author Hall, Per
dc.contributor.author Hamann, Ute
dc.contributor.author Hake, Christopher
dc.contributor.author He, Wei
dc.contributor.author Heyworth, Jane
dc.contributor.author Hogervorst, Frans B.L.
dc.contributor.author Hollestelle, Antoinette
dc.contributor.author Hooning, Maartje J.
dc.contributor.author Hoover, Robert N.
dc.contributor.author Hopper, John L.
dc.contributor.author Huang, Guanmengqian
dc.contributor.author Humphreys, Keith
dc.contributor.author Imyanitov, Evgeny N.
dc.contributor.author Isaacs, Claudine
dc.contributor.author Jakimovska, Milena
dc.contributor.author Jakubowska, Anna
dc.contributor.author James, Paul
dc.contributor.author Janavicius, Ramunas
dc.contributor.author Jankowitz, Rachel C.
dc.contributor.author John, Esther M.
dc.contributor.author Johnson, Nichola
dc.contributor.author Joseph, Vijai
dc.contributor.author Jung, Audrey
dc.contributor.author Karlan, Beth Y.
dc.contributor.author Khusnutdinova, Elza
dc.contributor.author Kiiski, Johanna I.
dc.contributor.author Konstantopoulou, Irene
dc.contributor.author Kristensen, Vessela N.
dc.contributor.author Laitman, Yael
dc.contributor.author Lambrechts, Diether
dc.contributor.author Lazaro, Conxi
dc.contributor.author Leroux, Dominique
dc.contributor.author Leslie, Goska
dc.contributor.author Lester, Jenny
dc.contributor.author Lesueur, Fabienne
dc.contributor.author Lindor, Noralane
dc.contributor.author Lindstrom, Sara
dc.contributor.author Lo, Wing-Yee
dc.contributor.author Loud, Jennifer T.
dc.contributor.author Lubinski, Jan
dc.contributor.author Makalic, Enes
dc.contributor.author Mannermaa, Arto
dc.contributor.author Manoochehri, Mehdi
dc.contributor.author Manoukian, Siranoush
dc.contributor.author Margolin, Sara
dc.contributor.author Martens, John W.M.
dc.contributor.author Martinez, Maria E.
dc.contributor.author Matricardi, Laura
dc.contributor.author Maurer, Tabea
dc.contributor.author Mavroudis, Dimitrios
dc.contributor.author McGuffog, Lesley
dc.contributor.author Meindl, Alfons
dc.contributor.author Menon, Usha
dc.contributor.author Michailidou, Kyriaki
dc.contributor.author Kapoor, Pooja M.
dc.contributor.author Miller, Austin
dc.contributor.author Montagna, Marco
dc.contributor.author Moreno, Fernando
dc.contributor.author Moserle, Lidia
dc.contributor.author Mulligan, Anna M.
dc.contributor.author Muranen, Taru A.
dc.contributor.author Nathanson, Katherine L.
dc.contributor.author Neuhausen, Susan L.
dc.contributor.author Nevanlinna, Heli
dc.contributor.author Nevelsteen, Ines
dc.contributor.author Nielsen, Finn C.
dc.contributor.author Nikitina-Zake, Liene
dc.contributor.author Offit, Kenneth
dc.contributor.author Olah, Edith
dc.contributor.author Olopade, Olufunmilayo I.
dc.contributor.author Olsson, Hakan
dc.contributor.author Osorio, Ana
dc.contributor.author Papp, Janos
dc.contributor.author Park-Simon, Tjoung-Won
dc.contributor.author Parsons, Michael T.
dc.contributor.author Pedersen, Inge S.
dc.contributor.author Peixoto, Ana
dc.contributor.author Peterlongo, Paolo
dc.contributor.author Peto, Julian
dc.contributor.author Pharoah, Paul D.P.
dc.contributor.author Phillips, Kelly-Anne
dc.contributor.author Plaseska-Karanfilska, Dijana
dc.contributor.author Poppe, Bruce
dc.contributor.author Pradhan, Nisha
dc.contributor.author Prajzendanc, Karolina
dc.contributor.author Presneau, Nadege
dc.contributor.author Punie, Kevin
dc.contributor.author Pylkäs, Katri
dc.contributor.author Radice, Paolo
dc.contributor.author Rantala, Johanna
dc.contributor.author Rashid, Muhammad Usman
dc.contributor.author Rennert, Gad
dc.contributor.author Risch, Harvey A.
dc.contributor.author Robson, Mark
dc.contributor.author Romero, Atocha
dc.contributor.author Saloustros, Emmanouil
dc.contributor.author Sandler, Dale P.
dc.contributor.author Santos, Catarina
dc.contributor.author Sawyer, Elinor J.
dc.contributor.author Schmidt, Marjanka K.
dc.contributor.author Schmidt, Daniel F.
dc.contributor.author Schmutzler, Rita K.
dc.contributor.author Schoemaker, Minouk J.
dc.contributor.author Scott, Rodney J.
dc.contributor.author Sharma, Priyanka
dc.contributor.author Shu, Xiao-Ou
dc.contributor.author Simard, Jacques
dc.contributor.author Singer, Christian F.
dc.contributor.author Skytte, Anne-Bine
dc.contributor.author Soucy, Penny
dc.contributor.author Southey, Melissa C.
dc.contributor.author Spinelli, John J.
dc.contributor.author Spurdle, Amanda B.
dc.contributor.author Stone, Jennifer
dc.contributor.author Swerdlow, Anthony J.
dc.contributor.author Tapper, William J.
dc.contributor.author Taylor, Jack A.
dc.contributor.author Teixeira, Manuel R.
dc.contributor.author Terry, Mary Beth
dc.contributor.author Teule, Alex
dc.contributor.author Thomassen, Mads
dc.contributor.author Thöne, Kathrin
dc.contributor.author Thull, Darcy L.
dc.contributor.author Tischkowitz, Marc
dc.contributor.author Toland, Amanda E.
dc.contributor.author Tollenaar, Rob A.E.M.
dc.contributor.author Torres, Diana
dc.contributor.author Truong, Therese
dc.contributor.author Tung, Nadine
dc.contributor.author Vachon, Celine M.
dc.contributor.author Van den Ouweland, Ans M.W.
dc.contributor.author Van Asperen, Christi J.
dc.contributor.author Jansen van Rensburg, Elizabeth
dc.contributor.author Vega, Ana
dc.contributor.author Viel, Alessandra
dc.contributor.author Vieiro-Balo, Paula
dc.contributor.author Wang, Qin
dc.contributor.author Wappenschmidt, Barbara
dc.contributor.author Weinberg, Clarice R.
dc.contributor.author Weitzel, Jeffrey N.
dc.contributor.author Wendt, Camilla
dc.contributor.author Winqvist, Robert
dc.contributor.author Yang, Xiaohong R.
dc.contributor.author Yannoukakos, Drakoulis
dc.contributor.author Ziogas, Argyrios
dc.contributor.author Milne, Roger L.
dc.contributor.author Easton., Douglas F.
dc.contributor.author Chenevix-Trench, Georgia
dc.contributor.author Zheng, Wei
dc.contributor.author Kraft, Peter
dc.contributor.author Jiang, Xia
dc.date.accessioned 2021-06-02T07:42:32Z
dc.date.available 2021-06-02T07:42:32Z
dc.date.issued 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 https://onlinelibrary.wiley.com/journal/10982272 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.identifier.uri http://hdl.handle.net/2263/80193
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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