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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

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dc.contributor.authorFerreira, Manuel A
dc.contributor.authorGamazon, Eric R
dc.contributor.authorAl-Ejeh, Fares
dc.contributor.authorAittomäki, Kristiina
dc.contributor.authorAndrulis, Irene L
dc.contributor.authorAnton-Culver, Hoda
dc.contributor.authorArason, Adalgeir
dc.contributor.authorArndt, Volker
dc.contributor.authorAronson, Kristan J
dc.contributor.authorArun, Banu K
dc.contributor.authorAsseryanis, Ella
dc.contributor.authorAzzollini, Jacopo
dc.contributor.authorBalmaña, Judith
dc.contributor.authorBarnes, Daniel R
dc.contributor.authorBarrowdale, Daniel
dc.contributor.authorBeckmann, Matthias W
dc.contributor.authorBehrens, Sabine
dc.contributor.authorBenitez, Javier
dc.contributor.authorBermisheva, Marina
dc.contributor.authorBiałkowska, Katarzyna
dc.contributor.authorBlomqvist, Carl
dc.contributor.authorBogdanova, Natalia V
dc.contributor.authorBojesen, Stig E
dc.contributor.authorBolla, Manjeet K
dc.contributor.authorBorg, Ake
dc.contributor.authorBrauch, Hiltrud
dc.contributor.authorBrenner, Hermann
dc.contributor.authorBroeks, Annegien
dc.contributor.authorBurwinkel, Barbara
dc.contributor.authorCaldés, Trinidad
dc.contributor.authorCaligo, Maria A
dc.contributor.authorCampa, Daniele
dc.contributor.authorCampbell, Ian
dc.contributor.authorCanzian, Federico
dc.contributor.authorCarter, Jonathan
dc.contributor.authorCarter, Brian D
dc.contributor.authorCastelao, Jose E
dc.contributor.authorChang-Claude, Jenny
dc.contributor.authorChanock, Stephen J
dc.contributor.authorChristiansen, Hans
dc.contributor.authorChung, Wendy K
dc.contributor.authorClaes, Kathleen B M
dc.contributor.authorClarke, Christine L
dc.contributor.authorCouch, Fergus J
dc.contributor.authorCox, Angela
dc.contributor.authorCross, Simon S
dc.contributor.authorCzene, Kamila
dc.contributor.authorDaly, Mary B
dc.contributor.authorde la Hoya, Miguel
dc.contributor.authorDennis, Joe
dc.contributor.authorDevilee, Peter
dc.contributor.authorDiez, Orland
dc.contributor.authorDörk, Thilo
dc.contributor.authorDunning, Alison M
dc.contributor.authorDwek, Miriam
dc.contributor.authorEccles, Diana M
dc.contributor.authorEjlertsen, Bent
dc.contributor.authorEllberg, Carolina
dc.contributor.authorEngel, Christoph
dc.contributor.authorEriksson, Mikael
dc.contributor.authorFasching, Peter A
dc.contributor.authorFletcher, Olivia
dc.contributor.authorFlyger, Henrik
dc.contributor.authorFriedman, Eitan
dc.contributor.authorFrost, Debra
dc.contributor.authorGabrielson, Marike
dc.contributor.authorGago-Dominguez, Manuela
dc.contributor.authorGanz, Patricia A
dc.contributor.authorGapstur, Susan M
dc.contributor.authorGarber, Judy
dc.contributor.authorGarcía-Closas, Montserrat
dc.contributor.authorGarcía-Sáenz, José A
dc.contributor.authorGaudet, Mia M
dc.contributor.authorGiles, Graham G
dc.contributor.authorGlendon, Gord
dc.contributor.authorGodwin, Andrew K
dc.contributor.authorGoldberg, Mark S
dc.contributor.authorGoldgar, David E
dc.contributor.authorGonzález-Neira, Anna
dc.contributor.authorGreene, Mark H
dc.contributor.authorGronwald, Jacek
dc.contributor.authorGuénel, Pascal
dc.contributor.authorHaiman, Christopher A
dc.contributor.authorHall, Per
dc.contributor.authorHamann, Ute
dc.contributor.authorHe, Wei
dc.contributor.authorHeyworth, Jane
dc.contributor.authorHogervorst, Frans B L
dc.contributor.authorHollestelle, Antoinette
dc.contributor.authorHoover, Robert N
dc.contributor.authorHopper, John L
dc.contributor.authorHulick, Peter J
dc.contributor.authorHumphreys, Keith
dc.contributor.authorImyanitov, Evgeny N
dc.contributor.authorIsaacs, Claudine
dc.contributor.authorJakimovska, Milena
dc.contributor.authorJakubowska, Anna
dc.contributor.authorJames, Paul A
dc.contributor.authorJanavicius, Ramunas
dc.contributor.authorJankowitz, Rachel C
dc.contributor.authorJohn, Esther M
dc.contributor.authorJohnson, Nichola
dc.contributor.authorJoseph, Vijai
dc.contributor.authorKarlan, Beth Y
dc.contributor.authorKhusnutdinova, Elza
dc.contributor.authorKiiski, Johanna I
dc.contributor.authorKo, Yon-Dschun
dc.contributor.authorJones, Michael E
dc.contributor.authorKonstantopoulou, Irene
dc.contributor.authorKristensen, Vessela N
dc.contributor.authorLaitman, Yael
dc.contributor.authorLambrechts, Diether
dc.contributor.authorLazaro, Conxi
dc.contributor.authorLeslie, Goska
dc.contributor.authorLester, Jenny
dc.contributor.authorLesueur, Fabienne
dc.contributor.authorLindström, Sara
dc.contributor.authorLong, Jirong
dc.contributor.authorLoud, Jennifer T
dc.contributor.authorLubiński, Jan
dc.contributor.authorMakalic, Enes
dc.contributor.authorMannermaa, Arto
dc.contributor.authorManoochehri, Mehdi
dc.contributor.authorMargolin, Sara
dc.contributor.authorMaurer, Tabea
dc.contributor.authorMavroudis, Dimitrios
dc.contributor.authorMcGuffog, Lesley
dc.contributor.authorMeindl, Alfons
dc.contributor.authorMenon, Usha
dc.contributor.authorMichailidou, Kyriaki
dc.contributor.authorMiller, Austin
dc.contributor.authorMontagna, Marco
dc.contributor.authorMoreno, Fernando
dc.contributor.authorMoserle, Lidia
dc.contributor.authorMulligan, Anna Marie
dc.contributor.authorNathanson, Katherine L
dc.contributor.authorNeuhausen, Susan L
dc.contributor.authorNevanlinna, Heli
dc.contributor.authorNevelsteen, Ines
dc.contributor.authorNielsen, Finn C
dc.contributor.authorNikitina-Zake, Liene
dc.contributor.authorNussbaum, Robert L
dc.contributor.authorOffit, Kenneth
dc.contributor.authorOlah, Edith
dc.contributor.authorOlopade, Olufunmilayo I
dc.contributor.authorOlsson, Håkan
dc.contributor.authorOsorio, Ana
dc.contributor.authorPapp, Janos
dc.contributor.authorPark-Simon, Tjoung-Won
dc.contributor.authorParsons, Michael T
dc.contributor.authorPedersen, Inge Sokilde
dc.contributor.authorPeixoto, Ana
dc.contributor.authorPeterlongo, Paolo
dc.contributor.authorPharoah, Paul D P
dc.contributor.authorPlaseska-Karanfilska, Dijana
dc.contributor.authorPoppe, Bruce
dc.contributor.authorPresneau, Nadege
dc.contributor.authorRadice, Paolo
dc.contributor.authorRantala, Johanna
dc.contributor.authorRennert, Gad
dc.contributor.authorRisch, Harvey A
dc.contributor.authorSaloustros, Emmanouil
dc.contributor.authorSanden, Kristin
dc.contributor.authorSawyer, Elinor J
dc.contributor.authorSchmidt, Marjanka K
dc.contributor.authorSchmutzler, Rita K
dc.contributor.authorSharma, Priyanka
dc.contributor.authorShu, Xiao-Ou
dc.contributor.authorSimard, Jacques
dc.contributor.authorSinger, Christian F
dc.contributor.authorSoucy, Penny
dc.contributor.authorSouthey, Melissa C
dc.contributor.authorSpinelli, John J
dc.contributor.authorSpurdle, Amanda B
dc.contributor.authorStone, Jennifer
dc.contributor.authorSwerdlow, Anthony J
dc.contributor.authorTapper, William J
dc.contributor.authorTaylor, Jack A
dc.contributor.authorTeixeira, Manuel R
dc.contributor.authorTerry, Mary Beth
dc.contributor.authorTeulé, Alex
dc.contributor.authorThomassen, Mads
dc.contributor.authorThöne, Kathrin
dc.contributor.authorThull, Darcy L
dc.contributor.authorTischkowitz, Marc
dc.contributor.authorToland, Amanda E
dc.contributor.authorTorres, Diana
dc.contributor.authorTruong, Thérèse
dc.contributor.authorTung, Nadine
dc.contributor.authorVachon, Celine M
dc.contributor.authorvan Asperen, Christi J
dc.contributor.authorvan den Ouweland, Ans M W
dc.contributor.authorvan Rensburg, Elizabeth J
dc.contributor.authorVega, Ana
dc.contributor.authorViel, Alessandra
dc.contributor.authorWang, Qin
dc.contributor.authorWappenschmidt, Barbara
dc.contributor.authorWeitzel, Jeffrey N
dc.contributor.authorWendt, Camilla
dc.contributor.authorWinqvist, Robert
dc.contributor.authorYang, Xiaohong R
dc.contributor.authorYannoukakos, Drakoulis
dc.contributor.authorZiogas, Argyrios
dc.contributor.authorKraft, Peter
dc.contributor.authorAntoniou, Antonis C
dc.contributor.authorZheng, Wei
dc.contributor.authorEaston, Douglas F
dc.contributor.authorMilne, Roger L
dc.contributor.authorBeesley, Jonathan
dc.contributor.authorChenevix-Trench, Georgia
dc.contributor.funderNational Institutes of Health (Estados Unidos)
dc.contributor.funderAmerican Cancer Society
dc.contributor.funderInstitut Curie
dc.contributor.funderLigue Nationale Contre le Cancer (Francia)
dc.contributor.funderAgence Nationale de la Recherche (Francia)
dc.contributor.funderSociete Francaise de lutte contre les Cancers et les leucemies de l'Enfant et de l'adolescent
dc.contributor.funderUnión Europea. Comisión Europea. European Research Council (ERC)
dc.contributor.funderInstituto de Salud Carlos III
dc.contributor.funderMunich Center of Health Sciences
dc.contributor.funderVerein zur Förderung von Wissenschaft und Forschung an der Medizinischen Fakultät der LMU München
dc.contributor.funderWalter Schulz Foundation
dc.date.accessioned2019-09-16T11:42:24Z
dc.date.available2019-09-16T11:42:24Z
dc.date.issued2019-04-15
dc.descriptionGEMO Study Collaborators, GC-HBOC study Collabora-tors, EMBRACE Collaborators, HEBON Investigators, BCFR Investigators and ABCTB Investigators.es_ES
dc.description.abstractGenome-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.es_ES
dc.description.peerreviewedSíes_ES
dc.description.sponsorshipThis work was supported by the Intramural Research Program of the U.S. National Cancer Institute and the Intramural Research Program of the American Cancer Society. This work was supported by grants from the Institut Curie, the Inserm, the Ligue Nationale Contre le Cancer (Equipe labellisée, Carte d’Identité des Tumeurs program and Recherche Epidémiologique 2009 program), the ANR-10-EQPX-03 from the Agence Nationale de la Recherche, the European PROVABES (ERA-649 NET TRANSCAN JTC-2011), and ASSET (FP7-HEALTH-2010-259348) projects. This research was supported by FP7 grant “ EURO EWING Consortium ” No. 602856 and the following associations: Courir pour Mathieu, Dans les pas du Géant, Les Bagouzamanon, Enfants et Santé, M la vie avec Lisa, Lulu et les petites bouilles de lune, les Amis de Claire, l ’ Etoile de Martin and the Société Française de lutte contre les Cancers et les leucémies de l ’ Enfant et de l ’ adolescent. The laboratory of T. G. P. Grünewald is supported by grants from the ‘ Verein zur Förderung von Wissenschaft und Forschung an der Medizinischen Fakultät der LMU München (WiFoMed) ’ , by LMU Munich ’ s Institutional Strategy LMU excellent within the framework of the German Excellence Initiative, the ‘ Mehr LEBEN für kreb- skranke Kinder — Bettina-Bräu-Stiftung ’ , the Walter Schulz Foundation, the Wilhelm Sander-Foundation (2016.167.1), and by the German Cancer Aid (DKH-111886 and DKH-70112257). D. Surdez is supported by SiRIC (Grant « INCa-DGOS-4654). We thank the following clinicians for providing samples used in this study: C. Alenda, F. Almazán, D. Ansoborlo, L. Aymerich, L. Benboukbher, C. Beléndez, C. Berger, C. Ber- geron, P. Biron, J.Y. Blay, E. Bompas, H. Bonnefoi, P. Boutard, B. Bui-Nguyen, D. Chauveaux, C. Calvo, A. Carboné, C. Clement, T. Contra, N. Corradini, A.S. Defachelles, V. Gandemer-Delignieres, A. Deville, A. Echevarria, J. Fayette, M. Fraga, D. Frappaz, J.L. Fuster, P. García-Miguel, J.C. Gentet, P. Kerbrat, V. Laithier, V. Laurence, P. Leblond, O. Lejars, R. López-Almaraz, B. López-Ibor, P. Lutz, J.F. Mallet, L. Mansuy, P. Marec Bérard, G. Margueritte, A. Marie Cardine, C. Melero, L. Mignot, F. Millot, O. Minckes, G. Margueritte, C. Mata, M.E. Mateos, M. Melo, C. Moscardó, M. Munzer, B. Narciso, A. Navajas, D. Orbach, C. Oudot, H. Pacquement, C. Paillard, Y. Perel, T. Philip, C. Piguet, M.I. Pintor, D. Plantaz, E. Plouvier, S. Ramirez-Del-Villar, I. Ray-Coquard, Y. Reguerre, M. Rios, P. Rohrlich, H. Rubie, A. Sastre, G. Schleiermacher, C. Schmitt, P. Schneider, L. Sierrasesumaga, C. Soler, N. Sirvent, S. Taque, E. Thebaud, A. Thyss, R. Tichit, J.J. Uriz, J. P. Vannier, F. Watelle-Pichon. This work was supported by the Instituto de Salud Carlos III (PI16CIII/00026) and the Asociación Pablo Ugarte, Fundación Sonrisa de Alex, ASION-La Hucha de Tomás, Sociedad Española de Hematología y Oncología Pediátricas. The Childhood Cancer Survivor Study is supported by the National Cancer Institute (CA55727, G.T. Armstrong, Principal Investigator), with funding for genotyping from the Intramural Research Program of the National Institutes of Health, National Cancer Institute. The KORA study was initiated and fi nanced by the Helmholtz Zentrum München — German Research Center for Environmental Health, which is funded by the German Federal Ministry of Education and Research (BMBF) and by the State of Bavaria. Furthermore, KORA research was supported within the Munich Center of Health Sciences (MC-Health), Ludwig-Maximilians-Universität, as part of LMUinnovativ.es_ES
dc.format.number1es_ES
dc.format.page1741es_ES
dc.format.volume10es_ES
dc.identifier.citationNat Commun. 2019 ;10(1):1741.es_ES
dc.identifier.doi10.1038/s41467-018-08053-5es_ES
dc.identifier.e-issn2041-1723es_ES
dc.identifier.issn2041-1723es_ES
dc.identifier.journalNature communicationses_ES
dc.identifier.pubmedID30988301es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/8350
dc.language.isoenges_ES
dc.publisherNature Publishing Group
dc.relation.projectIDinfo:eu-repo/grantAgreement/EC/FP7/259348es_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/EC/FP7/602856es_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/PI16CIII/00026es_ES
dc.relation.publisherversionhttps://10.1038/s41467-018-08053-5.es_ES
dc.repisalud.institucionCNIOes_ES
dc.repisalud.orgCNIOCNIO::Unidades técnicas::Unidad de Genotipado Humano –CEGENes_ES
dc.rights.accessRightsopen accesses_ES
dc.rights.licenseAtribución-NoComercial 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.subjectCYCLIN E2es_ES
dc.subjectVARIANTSes_ES
dc.subjectEXPRESSIONes_ES
dc.subjectENHANCERSes_ES
dc.subjectCHROMATINes_ES
dc.subjectDISEASEes_ES
dc.subjectAUTOIMMUNITYes_ES
dc.subjectREGULATORes_ES
dc.subjectCOMPLEXes_ES
dc.subjectCELLSes_ES
dc.titleGenome-wide association and transcriptome studies identify target genes and risk loci for breast canceres_ES
dc.typejournal articlees_ES
dc.type.hasVersionVoRes_ES
dspace.entity.typePublication
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