Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
;
Alison MDunning;
MiriamDwek;
Diana MEccles;
BentEjlertsen;
CarolinaEllberg;
ChristophEngel;
MikaelEriksson;
Peter AFasching;
OliviaFletcher;
HenrikFlyger;
FlorentiaFostira;
EitanFriedman;
LinFritschi;
DebraFrost;
MarikeGabrielson;
Patricia AGanz;
Susan MGapstur;
JudyGarber;
MontserratGarcía-Closas;
José AGarcía-Sáenz;
Mia MGaudet;
Graham GGiles;
GordGlendon;
Andrew KGodwin;
Mark SGoldberg;
David EGoldgar;
AnnaGonzález-Neira;
Mark HGreene;
JacekGronwald;
PascalGuénel;
Christopher AHaiman;
PerHall;
UteHamann;
ChristopherHake;
WeiHe;
JaneHeyworth;
Frans BLHogervorst;
AntoinetteHollestelle;
Maartje JHooning;
Robert NHoover;
John LHopper;
GuanmengqianHuang;
Peter JHulick;
KeithHumphreys;
Evgeny NImyanitov;
ABCTB Investigators;
HEBON Investigators;
BCFR Investigators;
OCGN Investigators;
ClaudineIsaacs;
MilenaJakimovska;
AnnaJakubowska;
PaulJames;
RamunasJanavicius;
Rachel CJankowitz;
Esther MJohn;
NicholaJohnson;
VijaiJoseph;
AudreyJung;
Beth YKarlan;
ElzaKhusnutdinova;
Johanna IKiiski;
IreneKonstantopoulou;
Vessela NKristensen;
YaelLaitman;
DietherLambrechts;
ConxiLazaro;
DominiqueLeroux;
GoskaLeslie;
JennyLester;
FabienneLesueur;
NoralaneLindor;
SaraLindström;
Wing-YeeLo;
Jennifer TLoud;
JanLubiński;
EnesMakalic;
ArtoMannermaa;
MehdiManoochehri;
SiranoushManoukian;
SaraMargolin;
John WMMartens;
Maria EMartinez;
LauraMatricardi;
TabeaMaurer;
DimitriosMavroudis;
LesleyMcGuffog;
AlfonsMeindl;
UshaMenon;
KyriakiMichailidou;
Pooja MKapoor;
AustinMiller;
MarcoMontagna;
FernandoMoreno;
LidiaMoserle;
Anna MMulligan;
Taru AMuranen;
Katherine LNathanson;
Susan LNeuhausen;
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InesNevelsteen;
Finn CNielsen;
LieneNikitina-Zake;
KennethOffit;
EdithOlah;
Olufunmilayo IOlopade;
HåkanOlsson;
AnaOsorio;
JanosPapp;
Tjoung-WonPark-Simon;
Michael TParsons;
Inge SPedersen;
AnaPeixoto;
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Julian Peto ;
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Kelly-AnnePhillips;
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BrucePoppe;
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KevinPunie;
KatriPylkäs;
PaoloRadice;
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Muhammad UsmanRashid;
GadRennert;
Harvey ARisch;
MarkRobson;
AtochaRomero;
EmmanouilSaloustros;
Dale PSandler;
CatarinaSantos;
Elinor JSawyer;
Marjanka KSchmidt;
Daniel FSchmidt;
Rita KSchmutzler;
Minouk JSchoemaker;
Rodney JScott;
PriyankaSharma;
Xiao-OuShu;
JacquesSimard;
Christian FSinger;
Anne-BineSkytte;
PennySoucy;
Melissa CSouthey;
John JSpinelli;
Amanda BSpurdle;
JenniferStone;
Anthony JSwerdlow;
William JTapper;
Jack ATaylor;
Manuel RTeixeira;
Mary BethTerry;
AlexTeulé;
MadsThomassen;
KathrinThöne;
Darcy LThull;
MarcTischkowitz;
Amanda EToland;
Rob AEMTollenaar;
DianaTorres;
ThérèseTruong;
NadineTung;
Celine MVachon;
Christi Jvan Asperen;
Ans MWvan den Ouweland;
Elizabeth Jvan Rensburg;
AnaVega;
AlessandraViel;
PaulaVieiro-Balo;
QinWang;
BarbaraWappenschmidt;
Clarice RWeinberg;
Jeffrey NWeitzel;
CamillaWendt;
RobertWinqvist;
Xiaohong RYang;
DrakoulisYannoukakos;
ArgyriosZiogas;
Roger LMilne;
Douglas FEaston;
GeorgiaChenevix-Trench;
WeiZheng;
PeterKraft;
XiaJiang;
ABCTB Investigators, BCFR Investigators, OCGN Investigators, GEMO Study Collaborators, EMBRACE Collaborators, GC-HBOC study Collaborators;
(2020)
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
GENETIC EPIDEMIOLOGY, 44 (5).
pp. 442-468.
ISSN 0741-0395
DOI: 10.1002/gepi.22288
Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer.
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