Dunning, Alison M.Michailidou, KyriakiKuchenbaecker, Karoline B.Thompson, DeborahFrench, Juliet D.Beesley, JonathanHealey, Catherine S.Kar, SiddharthaPooley, Karen A.Lopez-Knowles, ElenaDicks, EdBarrowdale, DanielSinnott-Armstrong, Nicholas A.Sallari, Richard C.Hillman, Kristine M.Kaufmann, SusanneSivakumaran, HaranMarjaneh, Mahdi MoradiLee, Jason S.Hills, MargaretJarosz, MonikaDrury, SuzieCanisius, SanderBolla, Manjeet K.Dennis, JoeWang, QinHopper, John L.Southey, Melissa C.Broeks, AnnegienSchmidt, Marjanka K.Lophatananon, ArtitayaMuir, KennethBeckmann, Matthias W.Fasching, Peter A.Dos-Santos-Silva, IsabelPeto, JulianSawyer, Elinor J.Tomlinson, IanBurwinkel, BarbaraMarme, FrederikGuenel, PascalTruong, ThereseBojesen, Stig E.Flyger, HenrikGonzalez-Neira, AnnaPerez, Jose I.A.Anton-Culver, HodaEunjung, LeeArndt, VolkerBrenner, HermannMeindl, AlfonsSchmutzler, Rita K.Brauch, HamannUte HiltrudAittomaki, KristiinaBlomqvist, CarlIto, HidemiMatsuo, KeitaroBogdanova, NatashaDork, ThiloLindblom, MargolinSara AnnikaKosma, Veli-MattiMannermaa, ArtoTseng, Chiu-chenWu, Anna H.Lambrechts, DietherWildiers, HansChang-Claude, JennyRudolph, AnjaPeterlongo, PaoloRadice, PaoloOlson, Janet E.Giles, Graham G.Milne, Roger L.Haiman, Christopher A.Henderson, Brian E.Goldberg, Mark S.Teo, Soo H.Yip, Cheng HarSilje, NordBorresen-Dale, Anne-LiseKristensen, VesselaLong, JirongZheng, WeiPylkas, KatriWinqvist, RobertAndrulis, Irene L.Devilee, PeterSeynaeve, CarolineFigueroa, JonineSherman, Mark E.Czene, KamilaDarabi, HatefHollestelle, AntoinetteVan den Ouweland, Ans M.W.Humphreys, KeithGao, Yu-TangShu, Xiao-OuCox, AngelaCross, Simon S.Blot, WilliamCai, QiuyinGhoussaini, MayaPerkins, Babara J.Shah, MitulChoi, Ji-YeobKang, DaeheeLee, Soo ChinHartman, MikaelKabisch, MariaTorres, DianaJakubowska, AnnaLubinski, JanBrennan, PaulSangrajrang, SuleepornAmbrosone, Christine B.Toland, Amanda EwartShen, Chen-YangWu, Pei-EiOrr, NickSwerdlow, AnthonyMcGuffog, LesleyHealey, SueLee, AndrewKapuscinski, MiroslavJohn, Esther M.Terry, Mary BethDaly, Mary B.Goldgar, David E.Buys, Saundra S.Janavicius, RamunasTihomirova, LaimaTung, NadineDorfling, Cecilia MariaJanse van Rensburg, E.S. (Elsie)Neuhausen, Susan L.Ejlertsen, BentHansen, Thomas V.O.Osorio, AnaBenitez, JavierRando, RachelWeitzel, Jeffrey N.Bonanni, BernardoPeissel, BernardManoukian, SiranoushPapi, LauraOttini, LauraKonstantopoulou, IreneApostolou, ParaskeviGarber, JudyFrost, DebraRashid, Muhammad UsmanEMBRACEIzatt, LouiseEllis, SteveGodwin, Andrew K.Arnold, NorbertNiederacher, DieterRhiem, KerstinBogdanova-Markov, NadjaSagne, CharlotteStoppa-Lyonnet, DominiqueDamiola, FrancescaGEMO Study CollaboratorsSinilnikova, Olga M.Mazoyer, SylvieIsaacs, ClaudineClaes, Kathleen B.M.De Leeneer, KimDe la Hoya, MiguelCaldes, TrinidadNevanlinna, HeliKhan, SofiaMensenkamp, Arjen R.HEBONHooning, Maartje J.Rookus, Matti A.Kwong, AvaOlah, EdithDiez, OrlandBrunet, JoanPujana, Miquel AngelGronwald, JacekHuzarski, TomaszBarkardottir, Rosa B.Laframboise, RachelSoucy, PennyMontagna, MarcoAgata, SimonaTeixeira, Manuel R.kConFab InvestigatorsPark, Sue KyungLindor, NoralaneCouch, Fergus J.Tischkowitz, MarcForetova, LenkaVijai, JosephOffit, KennethSinger, Christian F.Rappaport, ChristinePhelan, Catherine M.Greene, Mark H.Mai, Phuong L.Rennert, GadImyanitov, Evgeny N.Hulick, Peter J.Phillips, Kelly-AnnePiedmonte, MarionMulligan, Anna MarieGlendon, GordBojesen, AndersThomassen, MadsCaligo, Maria A.Yoon, Sook-YeeFriedman, EitanLaitman, YaelBorg, AkeVon Wachenfeldt, AnnaEhrencrona, HansRantala, JohannaOlopade, Olufunmilayo I.Ganz, Patricia A.Nussbaum, Robert L.Gayther, Simon A.Nathanson, Katherine L.Domchek, Susan M.Arun, Banu K.Mitchell, GillianKarlan, Beth Y.Lester, JennyMaskarinec, GertraudWoolcott, ChristyScott, ChristopherHaakensen, VildeDowsett, MitchPharoah, Paul D.P.Simard, JacquesHall, PerGarcía-Closas, MontserratVachon, CelineChenevix-Trench, GeorgiaAntoniou, Antonis C.Easton, Douglas F.Edwards, Stacey L.2016-08-012016-04Dunning, AM, Michailidou, K, Kuchenbaecker, KB, Thompson, D, French, JD, Beesley, J, Healey, CS, Kar, S, Pooley, KA, Lopez-Knowles, E, Dicks, E, Barrowdale, D, Sinnott-Armstrong, NA, Sallari, RC, Hillman, KM, Kaufmann, S, Sivakumaran, H, Marjaneh, MM, Lee, JS, Hills, M, Jarosz, M, Drury, S, Canisius, S, Bolla, MK, Dennis, J, Wang, Q, Hopper, JL, Southey, MC, Broeks, A, Schmidt, MK, Lophatananon, A, Muir, K,Beckmann, MW, Fasching, PA,Ddos-Santos-Silva, I, Peto, J, Sawyer, EJ, Tomlinson, I, Burwinkel, B, Marme, F, Guenel, P, Truong, T, EBojesen, S, Flyger, H, González-Neira, A, Perez, JIA, Anton-Culver, H, Eunjung, L, Arndt, V, Hermann BrennerH, Meindl, A, Schmutzler, RK, Brauch, H, Hamann, U, Aittomaki, K, Blomqvist, C, Ito, H, Matsuo, K, Bogdanova, N, Dork, T, Lindblom, A, Margolin, S, Kosma, V-M, Mannermaa, A, Tseng, C-C, Wu, AH, Lambrechts, D, Wildiers, H, Chang-Claude, J, Rudolph, A, Peterlongo, P, Radice, P, Olson, JE, Giles, GG, Milne, RL, Haiman, CA, Henderson, BE, Goldberg, MS, Teo, SH, Yip, CH, Nord, S, Borresen-Dale, A-L, Kristensen, V, Long, J, Zheng, W, Pylkas, K, Winqvist, R, Andrulis, IL, Knight, JA, Devilee, P, Seynaeve, C, Figueroa, J, ESherman, M, Czene, K, Darabi, H, Hollestelle, A, van den Ouweland, AMW, Humphreys, K, Gao, Y-T, Shu, X-O, Cox, A, Cross, SS, Blot, W, Cai, Q, Ghoussaini, M, Perkins, BJ, Shah, M, Choi, J-Y, Kang, D, Lee, SC, Hartman, M, Kabisch, M, Torres, D, Jakubowska, A, Lubinski, J, Brennan, P, Sangrajrang, S, Ambrosone, CB, Toland, AE, Shen, C-Y, Wu, P-E, Orr, N, Swerdlow, A, McGuffog, L, Healey, S, Lee, A, Kapuscinski, M, John, EM, Terry, MB, Daly, MB, Goldgar, DE, Buys, SS, Janavicius, R, Tihomirova, L, Tung, N, Dorfling, CM, Van Rensburg, EJ, Neuhausen, SL, Ejlertsen, B, Hansen, TVO, Osorio, A, Benitez, J, Rando, R, Weitzel, JN, Bonanni, B, Peissel, B, Manoukian, S, Papi, L, Ottini, L, Konstantopoulou, I, Apostolou, P, Garber, J, Rashid, MU, Frost, D, EMBRACE, Izatt, L, Ellis, S, Godwin, AK, Arnold, N, Niederacher, D, Rhiem, K, Bogdanova-Markov, N, Sagne, C, Stoppa-Lyonnet, D, Damiola, F, GEMO Study Collaborators, Sinilnikova, OM, Mazoyer, S, Isaacs, C, Claes, KBM, De Leeneer, K, De la Hoya, M, Caldes, T, Nevanlinna, H, Khan, S, Mensenkamp, AR, HEBON, Hooning, MJ, Rookus, MA, Kwong, A, Olah, E, Diez, O, Brunet, J, Pujana, MA, Gronwald, J, Huzarski, T, Barkardottir, RB, Laframboise, R, Soucy, P, Montagna, M, Agata, S, Teixeira, MR, kConFab Investigators, Park, SK, Lindor, N, Couch, FJ, Tischkowitz, M, Foretova, L, Vijai, J, Offit, K, Singer, CF, Rappaport, C, Phelan, CM, Greene, MH, Mai, PL, Rennert, G, NImyanitov, E, Hulick, PJ, Phillips, K-A, Piedmonte, M, Mulligan, AM, Glendon, G, Bojesen, A, Thomassen, M, Caligo, MA, Yoon, S-Y, Friedman, E, Laitman, Y, Borg, A, Von Wachenfeldt, A, Ehrencrona, H, Rantala, J, Olopade, OI, Ganz, PA, Nussbaum, RL, Gayther, SA, Nathanson, KL, Domchek, SM, Karun, B, Mitchell, G, Karlan, BY, Lester, J, Maskarinec, G, Woolcott, C, Scott, C, Stone, J, Apicella, C, Tamimi, R, Luben, R, Khaw, K-T, Helland, A, Haakensen, V, Dowsett, M, Pharoah, PDP, Simard, J, Hall, P, García-Closas, M, Vachon, C, Chenevix-Trench, G, Antoniou, AC, Easton, DF & Edwards, SL 2016, ‘Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170', Nature Genetics, vol. 48, no. 4, pp. 374-388.1061-4036 (print)1546-1718 (online)10.1038/ng.3521http://hdl.handle.net/2263/56135We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor a) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER+ or ER−) and human ERBB2 (HER2+ or HER2−) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER− tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression.en© 2016 Nature America, Inc. All rights reserved.VariantsEstrogen Receptor 1 (ESR1)Coiled-coil domain containing 170 (CCDC170)Required for meiotic nuclear division 1 (RMND1)Article