Ferreira, Manuel AGamazon, Eric RAl-Ejeh, FaresAittomäki, KristiinaAndrulis, Irene LAnton-Culver, HodaArason, AdalgeirArndt, VolkerAronson, Kristan JArun, Banu KAsseryanis, EllaAzzollini, JacopoBalmaña, JudithBarnes, Daniel RBarrowdale, DanielBeckmann, Matthias WBehrens, SabineBenitez, JavierBermisheva, MarinaBiałkowska, KatarzynaBlomqvist, CarlBogdanova, Natalia VBojesen, Stig EBolla, Manjeet KBorg, AkeBrauch, HiltrudBrenner, HermannBroeks, AnnegienBurwinkel, BarbaraCaldés, TrinidadCaligo, Maria ACampa, DanieleCampbell, IanCanzian, FedericoCarter, JonathanCarter, Brian DCastelao, Jose EChang-Claude, JennyChanock, Stephen JChristiansen, HansChung, Wendy KClaes, Kathleen B MClarke, Christine LCouch, Fergus JCox, AngelaCross, Simon SCzene, KamilaDaly, Mary Bde la Hoya, MiguelDennis, JoeDevilee, PeterDiez, OrlandDörk, ThiloDunning, Alison MDwek, MiriamEccles, Diana MEjlertsen, BentEllberg, CarolinaEngel, ChristophEriksson, MikaelFasching, Peter AFletcher, OliviaFlyger, HenrikFriedman, EitanFrost, DebraGabrielson, MarikeGago-Dominguez, ManuelaGanz, Patricia AGapstur, Susan MGarber, JudyGarcía-Closas, MontserratGarcía-Sáenz, José AGaudet, Mia MGiles, Graham GGlendon, GordGodwin, Andrew KGoldberg, Mark SGoldgar, David EGonzález-Neira, AnnaGreene, Mark HGronwald, JacekGuénel, PascalHaiman, Christopher AHall, PerHamann, UteHe, WeiHeyworth, JaneHogervorst, Frans B LHollestelle, AntoinetteHoover, Robert NHopper, John LHulick, Peter JHumphreys, KeithImyanitov, Evgeny NIsaacs, ClaudineJakimovska, MilenaJakubowska, AnnaJames, Paul AJanavicius, RamunasJankowitz, Rachel CJohn, Esther MJohnson, NicholaJoseph, VijaiKarlan, Beth YKhusnutdinova, ElzaKiiski, Johanna IKo, Yon-DschunJones, Michael EKonstantopoulou, IreneKristensen, Vessela NLaitman, YaelLambrechts, DietherLazaro, ConxiLeslie, GoskaLester, JennyLesueur, FabienneLindström, SaraLong, JirongLoud, Jennifer TLubiński, JanMakalic, EnesMannermaa, ArtoManoochehri, MehdiMargolin, SaraMaurer, TabeaMavroudis, DimitriosMcGuffog, LesleyMeindl, AlfonsMenon, UshaMichailidou, KyriakiMiller, AustinMontagna, MarcoMoreno, FernandoMoserle, LidiaMulligan, Anna MarieNathanson, Katherine LNeuhausen, Susan LNevanlinna, HeliNevelsteen, InesNielsen, Finn CNikitina-Zake, LieneNussbaum, Robert LOffit, KennethOlah, EdithOlopade, Olufunmilayo IOlsson, HåkanOsorio, AnaPapp, JanosPark-Simon, Tjoung-WonParsons, Michael TPedersen, Inge SokildePeixoto, AnaPeterlongo, PaoloPharoah, Paul D PPlaseska-Karanfilska, DijanaPoppe, BrucePresneau, NadegeRadice, PaoloRantala, JohannaRennert, GadRisch, Harvey ASaloustros, EmmanouilSanden, KristinSawyer, Elinor JSchmidt, Marjanka KSchmutzler, Rita KSharma, PriyankaShu, Xiao-OuSimard, JacquesSinger, Christian FSoucy, PennySouthey, Melissa CSpinelli, John JSpurdle, Amanda BStone, JenniferSwerdlow, Anthony JTapper, William JTaylor, Jack ATeixeira, Manuel RTerry, Mary BethTeulé, AlexThomassen, MadsThöne, KathrinThull, Darcy LTischkowitz, MarcToland, Amanda ETorres, DianaTruong, ThérèseTung, NadineVachon, Celine Mvan Asperen, Christi Jvan den Ouweland, Ans M Wvan Rensburg, Elizabeth JVega, AnaViel, AlessandraWang, QinWappenschmidt, BarbaraWeitzel, Jeffrey NWendt, CamillaWinqvist, RobertYang, Xiaohong RYannoukakos, DrakoulisZiogas, ArgyriosKraft, PeterAntoniou, Antonis CZheng, WeiEaston, Douglas FMilne, Roger LBeesley, JonathanChenevix-Trench, Georgia2019-09-162019-09-162019-04-15Nat Commun. 2019 ;10(1):1741.2041-1723http://hdl.handle.net/20.500.12105/8350GEMO Study Collaborators, GC-HBOC study Collabora-tors, EMBRACE Collaborators, HEBON Investigators, BCFR Investigators and ABCTB Investigators.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.engVoRCYCLIN E2VARIANTSEXPRESSIONENHANCERSCHROMATINDISEASEAUTOIMMUNITYREGULATORCOMPLEXCELLSAtribución-NoComercial 4.0 Internacional30988301101174110.1038/s41467-018-08053-52041-1723Nature communicationsopen access