학술논문

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Document Type
article
Author
Zhang, HaoyuAhearn, Thomas ULecarpentier, JulieBarnes, DanielBeesley, JonathanQi, GuanghaoJiang, XiaO’Mara, Tracy AZhao, NiBolla, Manjeet KDunning, Alison MDennis, JoeWang, QinFul, Zumuruda AbuAittomäki, KristiinaAndrulis, Irene LAnton-Culver, HodaArndt, VolkerAronson, Kristan JArun, Banu KAuer, Paul LAzzollini, JacopoBarrowdale, DanielBecher, HeikoBeckmann, Matthias WBehrens, SabineBenitez, JavierBermisheva, MarinaBialkowska, KatarzynaBlanco, AnaBlomqvist, CarlBogdanova, Natalia VBojesen, Stig EBonanni, BernardoBondavalli, DavideBorg, AkeBrauch, HiltrudBrenner, HermannBriceno, IgnacioBroeks, AnnegienBrucker, Sara YBrüning, ThomasBurwinkel, BarbaraBuys, Saundra SByers, HelenCaldés, TrinidadCaligo, Maria ACalvello, MariarosariaCampa, DanieleCastelao, Jose EChang-Claude, JennyChanock, Stephen JChristiaens, MelissaChristiansen, HansChung, Wendy KClaes, Kathleen BMClarke, Christine LCornelissen, StenCouch, Fergus JCox, AngelaCross, Simon SCzene, KamilaDaly, Mary BDevilee, PeterDiez, OrlandDomchek, Susan MDörk, ThiloDwek, MiriamEccles, Diana MEkici, Arif BEvans, D GarethFasching, Peter AFigueroa, JonineForetova, LenkaFostira, FlorentiaFriedman, EitanFrost, DebraGago-Dominguez, ManuelaGapstur, Susan MGarber, JudyGarcía-Sáenz, José AGaudet, Mia MGayther, Simon AGiles, Graham GGodwin, Andrew KGoldberg, Mark SGoldgar, David EGonzález-Neira, AnnaGreene, Mark HGronwald, JacekGuénel, PascalHäberle, LotharHahnen, EricHaiman, Christopher AHake, Christopher RHall, PerHamann, UteHarkness, Elaine FHeemskerk-Gerritsen, Bernadette AMHillemanns, Peter
Source
Nature Genetics. 52(6)
Subject
Biological Sciences
Genetics
Breast Cancer
Cancer
Human Genome
Prevention
Aetiology
2.1 Biological and endogenous factors
BRCA1 Protein
Breast Neoplasms
Case-Control Studies
Female
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Linkage Disequilibrium
Mutation
Triple Negative Breast Neoplasms
kConFab Investigators
ABCTB Investigators
EMBRACE Study
GEMO Study Collaborators
Medical and Health Sciences
Developmental Biology
Agricultural biotechnology
Bioinformatics and computational biology
Language
Abstract
Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1-3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P