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oai:repisalud.isciii.es:20.500.12105/83502024-11-29T17:22:37Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud author Ferreira, Manuel A author Gamazon, Eric R author Al-Ejeh, Fares author Aittomäki, Kristiina author Andrulis, Irene L author Anton-Culver, Hoda author Arason, Adalgeir author Arndt, Volker author Aronson, Kristan J author Arun, Banu K author Asseryanis, Ella author Azzollini, Jacopo author Balmaña, Judith author Barnes, Daniel R author Barrowdale, Daniel author Beckmann, Matthias W author Behrens, Sabine author Benitez, Javier author Bermisheva, Marina author Białkowska, Katarzyna author Blomqvist, Carl author Bogdanova, Natalia V author Bojesen, Stig E author Bolla, Manjeet K author Borg, Ake author Brauch, Hiltrud author Brenner, Hermann author Broeks, Annegien author Burwinkel, Barbara author Caldés, Trinidad author Caligo, Maria A author Campa, Daniele author Campbell, Ian author Canzian, Federico author Carter, Jonathan author Carter, Brian D author Castelao, Jose E author Chang-Claude, Jenny author Chanock, Stephen J author Christiansen, Hans author Chung, Wendy K author Claes, Kathleen B M author Clarke, Christine L author Couch, Fergus J author Cox, Angela author Cross, Simon S author Czene, Kamila author Daly, Mary B author de la Hoya, Miguel author Dennis, Joe author Devilee, Peter author Diez, Orland author Dörk, Thilo author Dunning, Alison M author Dwek, Miriam author Eccles, Diana M author Ejlertsen, Bent author Ellberg, Carolina author Engel, Christoph author Eriksson, Mikael author Fasching, Peter A author Fletcher, Olivia author Flyger, Henrik author Friedman, Eitan author Frost, Debra author Gabrielson, Marike author Gago-Dominguez, Manuela author Ganz, Patricia A author Gapstur, Susan M author Garber, Judy author García-Closas, Montserrat author García-Sáenz, José A author Gaudet, Mia M author Giles, Graham G author Glendon, Gord author Godwin, Andrew K author Goldberg, Mark S author Goldgar, David E author González-Neira, Anna author Greene, Mark H author Gronwald, Jacek author Guénel, Pascal author Haiman, Christopher A author Hall, Per author Hamann, Ute author He, Wei author Heyworth, Jane author Hogervorst, Frans B L author Hollestelle, Antoinette author Hoover, Robert N author Hopper, John L author Hulick, Peter J author Humphreys, Keith author Imyanitov, Evgeny N author Isaacs, Claudine author Jakimovska, Milena author Jakubowska, Anna author James, Paul A author Janavicius, Ramunas author Jankowitz, Rachel C author John, Esther M author Johnson, Nichola author Joseph, Vijai author Karlan, Beth Y author Khusnutdinova, Elza author Kiiski, Johanna I author Ko, Yon-Dschun author Jones, Michael E author Konstantopoulou, Irene author Kristensen, Vessela N author Laitman, Yael author Lambrechts, Diether author Lazaro, Conxi author Leslie, Goska author Lester, Jenny author Lesueur, Fabienne author Lindström, Sara author Long, Jirong author Loud, Jennifer T author Lubiński, Jan author Makalic, Enes author Mannermaa, Arto author Manoochehri, Mehdi author Margolin, Sara author Maurer, Tabea author Mavroudis, Dimitrios author McGuffog, Lesley author Meindl, Alfons author Menon, Usha author Michailidou, Kyriaki author Miller, Austin author Montagna, Marco author Moreno, Fernando author Moserle, Lidia author Mulligan, Anna Marie author Nathanson, Katherine L author Neuhausen, Susan L author Nevanlinna, Heli author Nevelsteen, Ines author Nielsen, Finn C author Nikitina-Zake, Liene author Nussbaum, Robert L author Offit, Kenneth author Olah, Edith author Olopade, Olufunmilayo I author Olsson, Håkan author Osorio, Ana author Papp, Janos author Park-Simon, Tjoung-Won author Parsons, Michael T author Pedersen, Inge Sokilde author Peixoto, Ana author Peterlongo, Paolo author Pharoah, Paul D P author Plaseska-Karanfilska, Dijana author Poppe, Bruce author Presneau, Nadege author Radice, Paolo author Rantala, Johanna author Rennert, Gad author Risch, Harvey A author Saloustros, Emmanouil author Sanden, Kristin author Sawyer, Elinor J author Schmidt, Marjanka K author Schmutzler, Rita K author Sharma, Priyanka author Shu, Xiao-Ou author Simard, Jacques author Singer, Christian F author Soucy, Penny author Southey, Melissa C author Spinelli, John J author Spurdle, Amanda B author Stone, Jennifer author Swerdlow, Anthony J author Tapper, William J author Taylor, Jack A author Teixeira, Manuel R author Terry, Mary Beth author Teulé, Alex author Thomassen, Mads author Thöne, Kathrin author Thull, Darcy L author Tischkowitz, Marc author Toland, Amanda E author Torres, Diana author Truong, Thérèse author Tung, Nadine author Vachon, Celine M author van Asperen, Christi J author van den Ouweland, Ans M W author van Rensburg, Elizabeth J author Vega, Ana author Viel, Alessandra author Wang, Qin author Wappenschmidt, Barbara author Weitzel, Jeffrey N author Wendt, Camilla author Winqvist, Robert author Yang, Xiaohong R author Yannoukakos, Drakoulis author Ziogas, Argyrios author Kraft, Peter author Antoniou, Antonis C author Zheng, Wei author Easton, Douglas F author Milne, Roger L author Beesley, Jonathan author Chenevix-Trench, Georgia funder National Institutes of Health (Estados Unidos) funder American Cancer Society funder Institut Curie funder Ligue Nationale Contre le Cancer (Francia) funder Agence Nationale de la Recherche (Francia) funder Societe Francaise de lutte contre les Cancers et les leucemies de l'Enfant et de l'adolescent funder Unión Europea. Comisión Europea. European Research Council (ERC) funder Instituto de Salud Carlos III funder Munich Center of Health Sciences funder Verein zur Förderung von Wissenschaft und Forschung an der Medizinischen Fakultät der LMU München funder Walter Schulz Foundation 2019-09-16T11:42:24Z 2019-09-16T11:42:24Z 2019-04-15 Nat Commun. 2019 ;10(1):1741. 10.1038/s41467-018-08053-5 2041-1723 2041-1723 Nature communications 30988301 http://hdl.handle.net/20.500.12105/8350 Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer. eng CYCLIN E2 VARIANTS EXPRESSION ENHANCERS CHROMATIN DISEASE AUTOIMMUNITY REGULATOR COMPLEX CELLS Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer journal article 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 URL https://repisalud.isciii.es/bitstreams/36317ac6-94e7-41bc-a3dc-4d36c8877e01/download File MD5 bc58c515cd1e4b8cdac9c38acf0afa91 3037280 application/pdf Genome-wideassociation.pdf URL https://repisalud.isciii.es/bitstreams/aca5ee94-dc74-4518-b785-9ce8ad54c68c/download File MD5 48ff090eb9a2f276bbbc8f7e2bbff33b 108300 text/plain Genome-wideassociation.pdf.txt