biostudies-literatureSiddiq AIntramural NIH HHSCancer Research UKNICHD NIH HHSBreast Cancer NowNIEHS NIH HHSNHLBI NIH HHSMedical Research CouncilNCI NIH HHSZonMwWellcome Trust5373-84https://www.ebi.ac.uk/biostudies/studies/S-EPMC3510753biostudies-literatureUnknown21(24)Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ≤ 1 × 10(-5) in an addHuman molecular geneticsA meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.PMC3510753R01-CA100598R01-CA77305P50 CA089393N01-HD-3-3175CA-06-503R01 HL043851CA047988P01 CA087969U01 CA098233R01-CA73629U01-CA98758U01 CA098710R25 CA092049U01-CA98710R01-CA63464U01 CA098758HL080467R01 CA132839K24 CA1690042004NOV49U01 CA113916R01 CA120120R01 CA1223401510611022R37 CA054281CA122340CA120120P30 ES010126U01 CA0696385U01CA113916R37-CA54281R01 CA073629R01 CA067262P50 CA116201P30 CA016056-32R01 CA100598U01 CA049449P50 CA058223R01 CA063464R01 CA054281U01 CA069631P30 CA016056R01 CA065725P50-CA58223K01 CA1606075UO1CA098233U01-CA69417HL04385R01 CA049449CA 65725RFA-CA-06-503G0700491CA132839R01-CA100374U01-CA98216P30 CA07178910118CA67262U01 CA098216P30 CA016086P30-ES10126CA49449CA109147R01 HL080467U01 CA063464U01 CA067262R01 CA077398R01 CA109147R01 CA050385U01 CA6963891756341CA87969R01 CA100374U01CA69631U01-CA98233U01 CA069417CA116201CA5038510124Diver WRFlesch-Janys DSouthey MCFeigelson HSMartin NGUitterlinden AGHankinson SECross SSBaglietto LChasman DILe Marchand LApicella CPalmer JRBlomqvist CEaston DFWaisfisz QAmbrosone CBFletcher OTurnbull CEkici ABMcLean CABuring JEvan Gils CHHein RWeaver JZheng WChen GKHall PGENICA ConsortiumMillikan RCPeto JSchmutzler RKMuller-Myhsok BDeming SLPharoah PTravis RCBernstein LHu JJJacobs KBKaaks RBrauch HSeveri GZiv EGerty SMFigueroa JDVan Den Berg DMonroe KRSchmidt DFRoss EJohn EMRiboli EMiron PRidker PMOvervad KBui QMZiegler RGCox AGreco DRhie SKRivadeneira FLesnick TWilkens LRPress MFFejerman LBuys SSJustenhoven CHenderson BESiddiq ADunning AMHuntsman SGarcia-Closas MBeckmann LBerg CDSchumacher FRDurcan LMeijers-Heijboer HLee AMCouch FJTapper WJWang XAittomaki KWang ZIngles SASinn HPChanock SJSund MChang-Claude JGaudet MMMakalic ENickels SGraham NChen CPark DJFasching PARahman NStevens KNDos Santos Silva IEccles DNevanlinna HLee IMMichailidou KRodriguez-Gil JLKraft PPalli DLiu JNyante SJVachon CMBandera EVStone JClavel-Chapelon FKolonel LNHunter DJDiasio RBIrwanto ALund ESchulz-Wendtland RIsaacs CFamilial Breast Cancer StudyHoover RNThun MJBeckmann MWGiles GGGodwin AKHaiman CACoetzee GAOlswold CCzene KAustralian Breast Cancer Tissue Bank InvestigatorsMontgomery GWPathak HHartmann AStram DOBrinton LLichtner PHopper JLLindstrom SHeinz JCarpenter JESlager SAmiano PCampa DLathrop MMeindl AfalseA meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ≤ 1 × 10(-5) in an add2012-01-01T00:00:00Z2012 Dec2026-05-01T07:23:05.816Z2026-04-29T03:08:16.539ZS-EPMC35107532297647410.1093/hmg/dds381