@article{8672024,
  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.}},
  author       = {{Feng, Helian and Gusev, Alexander and Pasaniuc, Bogdan and Wu, Lang and Long, Jirong and Abu-full, Zomoroda and Aittomaki, Kristiina and Andrulis, Irene L. and Anton-Culver, Hoda and Antoniou, Antonis C. and Arason, Adalgeir and Arndt, Volker and Aronson, Kristan J. and Arun, Banu K. and Asseryanis, Ella and Auer, Paul L. and Azzollini, Jacopo and Balmana, Judith and Barkardottir, Rosa B. and Barnes, Daniel R. and Barrowdale, Daniel and Beckmann, Matthias W. and Behrens, Sabine and Benitez, Javier and Bermisheva, Marina and Bialkowska, Katarzyna and Blanco, Ana and Blomqvist, Carl and Boeckx, Bram and Bogdanova, Natalia V. and Bojesen, Stig E. and Bolla, Manjeet K. and Bonanni, Bernardo and Borg, Ake and Brauch, Hiltrud and Brenner, Hermann and Briceno, Ignacio and Broeks, Annegien and Bruening, Thomas and Burwinkel, Barbara and Cai, Qiuyin and Caldes, Trinidad and Caligo, Maria A. and Campbell, Ian and Canisius, Sander and Campa, Daniele and Carter, Brian D. and Carter, Jonathan and Castelao, Jose E. and Chang-Claude, Jenny and Chanock, Stephen J. and Christiansen, Hans and Chung, Wendy K. and Claes, Kathleen and Clarke, Christine L. and Couch, Fergus J. and Cox, Angela and Cross, Simon S. and Cybulski, Cezary and Czene, Kamila and Daly, Mary B. and de la Hoya, Miguel and De Leeneer, Kim and Dennis, Joe and Devilee, Peter and Diez, Orland and Domchek, Susan M. and Doerk, Thilo and dos-Santos-Silva, Isabel and Dunning, Alison M. and Dwek, Miriam and Eccles, Diana M. and Ejlertsen, Bent and Ellberg, Carolina and Engel, Christoph and Eriksson, Mikael and Fasching, Peter A. and Fletcher, Olivia and Flyger, Henrik and Fostira, Florentia and Friedman, Eitan and Fritschi, Lin and Frost, Debra and Gabrielson, Marike and Ganz, Patricia A. and Gapstur, Susan M. and Garber, Judy and Garcia-Closas, Montserrat and Garcia-Saenz, Jose A. and Gaudet, Mia M. and Giles, Graham G. and Glendon, Gord and Godwin, Andrew K. and Goldberg, Mark S. and Goldgar, David E. and Gonzalez-Neira, Anna and Greene, Mark H. and Gronwald, Jacek and Guenel, Pascal and Haiman, Christopher A. and Hall, Per and Hamann, Ute and Hake, Christopher and He, Wei and Heyworth, Jane and Hogervorst, Frans B. L. and Hollestelle, Antoinette and Hooning, Maartje J. and Hoover, Robert N. and Hopper, John L. and Huang, Guanmengqian and Hulick, Peter J. and Humphreys, Keith and Imyanitov, Evgeny N. and Isaacs, Claudine and Jakimovska, Milena and Jakubowska, Anna and James, Paul and Janavicius, Ramunas and Jankowitz, Rachel C. and John, Esther M. and Johnson, Nichola and Joseph, Vijai and Jung, Audrey and Karlan, Beth Y. and Khusnutdinova, Elza and Kiiski, Johanna, I and Konstantopoulou, Irene and Kristensen, Vessela N. and Laitman, Yael and Lambrechts, Diether and Lazaro, Conxi and Leroux, Dominique and Leslie, Goska and Lester, Jenny and Lesueur, Fabienne and Lindor, Noralane and Lindstrom, Sara and Lo, Wing-Yee and Loud, Jennifer T. and Lubinski, Jan and Makalic, Enes and Mannermaa, Arto and Manoochehri, Mehdi and Manoukian, Siranoush and Margolin, Sara and Martens, John W. M. and Martinez, Maria E. and Matricardi, Laura and Maurer, Tabea and Mavroudis, Dimitrios and McGuffog, Lesley and Meindl, Alfons and Menon, Usha and Michailidou, Kyriaki and Kapoor, Pooja M. and Miller, Austin and Montagna, Marco and Moreno, Fernando and Moserle, Lidia and Mulligan, Anna M. and Muranen, Taru A. and Nathanson, Katherine L. and Neuhausen, Susan L. and Nevanlinna, Heli and Nevelsteen, Ines and Nielsen, Finn C. and Nikitina-Zake, Liene and Offit, Kenneth and Olah, Edith and Olopade, Olufunmilayo, I and Olsson, Hakan and Osorio, Ana and Papp, Janos and Park-Simon, Tjoung-Won and Parsons, Michael T. and Pedersen, Inge S. and Peixoto, Ana and Peterlongo, Paolo and Peto, Julian and Pharoah, Paul D. P. and Phillips, Kelly-Anne and Plaseska-Karanfilska, Dijana and Poppe, Bruce and Pradhan, Nisha and Prajzendanc, Karolina and Presneau, Nadege and Punie, Kevin and Pylkas, Katri and Radice, Paolo and Rantala, Johanna and Rashid, Muhammad Usman and Rennert, Gad and Risch, Harvey A. and Robson, Mark and Romero, Atocha and Saloustros, Emmanouil and Sandler, Dale P. and Santos, Catarina and Sawyer, Elinor J. and Schmidt, Marjanka K. and Schmidt, Daniel F. and Schmutzler, Rita K. and Schoemaker, Minouk J. and Scott, Rodney J. and Sharma, Priyanka and Shu, Xiao-Ou and Simard, Jacques and Singer, Christian F. and Skytte, Anne-Bine and Soucy, Penny and Southey, Melissa C. and Spinelli, John J. and Spurdle, Amanda B. and Stone, Jennifer and Swerdlow, Anthony J. and Tapper, William J. and Taylor, Jack A. and Teixeira, Manuel R. and Terry, Mary Beth and Teule, Alex and Thomassen, Mads and Thoene, Kathrin and Thull, Darcy L. and Tischkowitz, Marc and Toland, Amanda E. and Tollenaar, Rob A. E. M. and Torres, Diana and Truong, Therese and Tung, Nadine and Vachon, Celine M. and van Asperen, Christi J. and van den Ouweland, Ans M. W. and van Rensburg, Elizabeth J. and Vega, Ana and Viel, Alessandra and Vieiro-Balo, Paula and Wang, Qin and Wappenschmidt, Barbara and Weinberg, Clarice R. and Weitzel, Jeffrey N. and Wendt, Camilla and Winqvist, Robert and Yang, Xiaohong R. and Yannoukakos, Drakoulis and Ziogas, Argyrios and Milne, Roger L. and Easton, Douglas F. and Chenevix-Trench, Georgia and Zheng, Wei and Kraft, Peter and Jiang, Xia}},
  issn         = {{0741-0395}},
  journal      = {{GENETIC EPIDEMIOLOGY}},
  keywords     = {{SUSCEPTIBILITY LOCI,CARRIERS,TISSUE,IDENTIFICATION,STATISTICS,EXPRESSION,VARIANTS,breast cancer subtype,causal gene,GWAS,TWAS}},
  language     = {{eng}},
  number       = {{5}},
  pages        = {{442--468}},
  publisher    = {{Wiley}},
  title        = {{Transcriptome-wide association study of breast cancer risk by estrogen-receptor status}},
  url          = {{http://doi.org/10.1002/gepi.22288}},
  volume       = {{44}},
  year         = {{2020}},
}

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