Ghoussaini, MayaFletcher, OliviaMichailidou, KyriakiTurnbull, ClareSchmidt, Marjanka KDicks, EdDennis, JoeWang, QinHumphreys, Manjeet KLuccarini, CraigBaynes, CarolineConroy, DonMaranian, MelanieAhmed, ShahanaDriver, KristyJohnson, NicholaOrr, NicholasSilva, Isabel dos SantosWaisfisz, QuintenMeijers-Heijboer, HanneUitterlinden, Andre G.Rivadeneira, FernandoHall, PerCzene, KamilaIrwanto, AstridLiu, JianjunNevanlinna, HeliAittomäki, KristiinaBlomqvist, CarlMeindl, AlfonsSchmutzler, Rita KMüller-Myhsok, BertramLichtner, PeterChang-Claude, JennyHein, RebeccaNickels, StefanFlesch-Janys, DieterTsimiklis, HelenMakalic, EnesSchmidt, DanielBui, MinhHopper, John LApicella, CarmelPark, Daniel JSouthey, MelissaHunter, DavidChanock, Stephen JBroeks, AnnegienVerhoef, SennoHogervorst, Frans BLFasching, Peter A.Lux, Michael P.Beckmann, Matthias W.Ekici, Arif B.Sawyer, ElinorTomlinson, IanKerin, MichaelMarme, FrederikSchneeweiss, AndreasSohn, ChristofBurwinkel, BarbaraGuénel, PascalTruong, ThérèseCordina-Duverger, EmilieMenegaux, FlorenceBojesen, Stig ENordestgaard, Børge GNielsen, Sune FFlyger, HenrikMilne, Roger L.Alonso, M. RosarioGonzález-Neira, AnnaBenítez, JavierAnton-Culver, HodaZiogas, ArgyriosBernstein, LeslieDur, Christina ClarkeBrenner, HermannMüller, HeikoArndt, VolkerStegmaier, ChristaJustenhoven, ChristinaBrauch, HiltrudBrüning, ThomasWang-Gohrke, ShanEilber, UrsulaDörk, ThiloSchürmann, PeterBremer, MichaelHillemanns, PeterBogdanova, Natalia V.Antonenkova, Natalia N.Rogov, Yuri I.Karstens, Johann H.Bermisheva, MarinaProkofieva, DaryaKhusnutdinova, ElzaLindblom, AnnikaMargolin, SaraMannermaa, ArtoKataja, VesaKosma, Veli-MattiHartikainen, Jaana MLambrechts, DietherYesilyurt, Betul T.Floris, GiuseppeLeunen, KarinManoukian, SiranoushBonanni, BernardoFortuzzi, StefanoPeterlongo, PaoloCouch, Fergus JWang, XianshuStevens, KristenLee, AdamGiles, Graham G.Baglietto, LauraSeveri, GianlucaMcLean, CatrionaAlnæs, Grethe GrenakerKristensen, VesselaBørrensen-Dale, Anne-LiseJohn, Esther M.Miron, AWinqvist, RobertPylkäs, KatriJukkola-Vuorinen, ArjaKauppila, SailaAndrulis, Irene L.Glendon, GordMulligan, Anna MarieDevilee, Petervan Asperen, Christie J.Tollenaar, Rob A.E.M.Seynaeve, CarolineFigueroa, Jonine DGarcia-Closas, MontserratBrinton, LouiseLissowska, JolantaHooning, Maartje J.Hollestelle, AntoinetteOldenburg, Rogier A.van den Ouweland, Ans M.W.Cox, AngelaReed, Malcolm WRShah, MitulJakubowska, AniaLubinski, JanJaworska, KatarzynaDurda, KatarzynaJones, MichaelSchoemaker, MinoukAshworth, AlanSwerdlow, AnthonyBeesley, JonathanChen, XiaoqingMuir, Kenneth RLophatananon, ArtitayaRattanamongkongul, SutheeChaiwerawattana, ArkomKang, DaeheeYoo, Keun-YoungNoh, Dong-YoungShen, Chen-YangYu, Jyh-CherngWu, Pei-EiHsiung, Chia-NiPerkins, AnnieSwann, RuthVelentzis, LouizaEccles, Diana MTapper, Will JGerty, Susan MGraham, Nikki JPonder, Bruce A. J.Chenevix-Trench, GeorgiaPharoah, Paul D.P.Lathrop, MarkDunning, Alison M.Rahman, NazneenPeto, JulianEaston, Douglas F2013-12-122013Ghoussaini, Maya, Olivia Fletcher, Kyriaki Michailidou, Clare Turnbull, Marjanka K Schmidt, Ed Dicks, Joe Dennis, et al. 2013. Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nature genetics 44(3): 312-318.1061-4036http://nrs.harvard.edu/urn-3:HUL.InstRepos:11370694Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ~ 8% of the heritability of the disease. We followed up 72 promising associations from two independent Genome Wide Association Studies (GWAS) in ~70,000 cases and ~68,000 controls from 41 case-control studies and nine breast cancer GWAS. We identified three new breast cancer risk loci on 12p11 (rs10771399; P=2.7 × 10−35), 12q24 (rs1292011; P=4.3×10−19) and 21q21 (rs2823093; P=1.1×10−12). SNP rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) plays a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, while NRIP1 (21q21) encodes an ER co-factor and has a role in the regulation of breast cancer cell growth.en-USJournal Article2013-12-1210.1038/ng.1049