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dc.contributor.authorFeng, Hen_US
dc.contributor.authorGusev, Aen_US
dc.contributor.authorPasaniuc, Ben_US
dc.contributor.authorWu, Len_US
dc.contributor.authorLong, Jen_US
dc.contributor.authorAbu-Full, Zen_US
dc.contributor.authorAittomäki, Ken_US
dc.contributor.authorAndrulis, ILen_US
dc.contributor.authorAnton-Culver, Hen_US
dc.contributor.authorAntoniou, ACen_US
dc.contributor.authorArason, Aen_US
dc.contributor.authorArndt, Ven_US
dc.contributor.authorAronson, KJen_US
dc.contributor.authorArun, BKen_US
dc.contributor.authorAsseryanis, Een_US
dc.contributor.authorAuer, PLen_US
dc.contributor.authorAzzollini, Jen_US
dc.contributor.authorBalmaña, Jen_US
dc.contributor.authorBarkardottir, RBen_US
dc.contributor.authorBarnes, DRen_US
dc.contributor.authorBarrowdale, Den_US
dc.contributor.authorBeckmann, MWen_US
dc.contributor.authorBehrens, Sen_US
dc.contributor.authorBenitez, Jen_US
dc.contributor.authorBermisheva, Men_US
dc.contributor.authorBiałkowska, Ken_US
dc.contributor.authorBlanco, Aen_US
dc.contributor.authorBlomqvist, Cen_US
dc.contributor.authorBoeckx, Ben_US
dc.contributor.authorBogdanova, NVen_US
dc.contributor.authorBojesen, SEen_US
dc.contributor.authorBolla, MKen_US
dc.contributor.authorBonanni, Ben_US
dc.contributor.authorBorg, Aen_US
dc.contributor.authorBrauch, Hen_US
dc.contributor.authorBrenner, Hen_US
dc.contributor.authorBriceno, Ien_US
dc.contributor.authorBroeks, Aen_US
dc.contributor.authorBrüning, Ten_US
dc.contributor.authorBurwinkel, Ben_US
dc.contributor.authorCai, Qen_US
dc.contributor.authorCaldés, Ten_US
dc.contributor.authorCaligo, MAen_US
dc.contributor.authorCampbell, Ien_US
dc.contributor.authorCanisius, Sen_US
dc.contributor.authorCampa, Den_US
dc.contributor.authorCarter, BDen_US
dc.contributor.authorCarter, Jen_US
dc.contributor.authorCastelao, JEen_US
dc.contributor.authorChang-Claude, Jen_US
dc.contributor.authorChanock, SJen_US
dc.contributor.authorChristiansen, Hen_US
dc.contributor.authorChung, WKen_US
dc.contributor.authorClaes, KBMen_US
dc.contributor.authorClarke, CLen_US
dc.contributor.authorGEMO Study Collaboratorsen_US
dc.contributor.authorEMBRACE Collaboratorsen_US
dc.contributor.authorGC-HBOC study Collaboratorsen_US
dc.contributor.authorCouch, FJen_US
dc.contributor.authorCox, Aen_US
dc.contributor.authorCross, SSen_US
dc.contributor.authorCybulski, Cen_US
dc.contributor.authorCzene, Ken_US
dc.contributor.authorDaly, MBen_US
dc.contributor.authorde la Hoya, Men_US
dc.contributor.authorDe Leeneer, Ken_US
dc.contributor.authorDennis, Jen_US
dc.contributor.authorDevilee, Pen_US
dc.contributor.authorDiez, Oen_US
dc.contributor.authorDomchek, SMen_US
dc.contributor.authorDörk, Ten_US
dc.contributor.authorDos-Santos-Silva, Ien_US
dc.contributor.authorDunning, AMen_US
dc.contributor.authorDwek, Men_US
dc.contributor.authorEccles, DMen_US
dc.contributor.authorEjlertsen, Ben_US
dc.contributor.authorEllberg, Cen_US
dc.contributor.authorEngel, Cen_US
dc.contributor.authorEriksson, Men_US
dc.contributor.authorFasching, PAen_US
dc.contributor.authorFletcher, Oen_US
dc.contributor.authorFlyger, Hen_US
dc.contributor.authorFostira, Fen_US
dc.contributor.authorFriedman, Een_US
dc.contributor.authorFritschi, Len_US
dc.contributor.authorFrost, Den_US
dc.contributor.authorGabrielson, Men_US
dc.contributor.authorGanz, PAen_US
dc.contributor.authorGapstur, SMen_US
dc.contributor.authorGarber, Jen_US
dc.contributor.authorGarcía-Closas, Men_US
dc.contributor.authorGarcía-Sáenz, JAen_US
dc.contributor.authorGaudet, MMen_US
dc.contributor.authorGiles, GGen_US
dc.contributor.authorGlendon, Gen_US
dc.contributor.authorGodwin, AKen_US
dc.contributor.authorGoldberg, MSen_US
dc.contributor.authorGoldgar, DEen_US
dc.contributor.authorGonzález-Neira, Aen_US
dc.contributor.authorGreene, MHen_US
dc.contributor.authorGronwald, Jen_US
dc.contributor.authorGuénel, Pen_US
dc.contributor.authorHaiman, CAen_US
dc.contributor.authorHall, Pen_US
dc.contributor.authorHamann, Uen_US
dc.contributor.authorHake, Cen_US
dc.contributor.authorHe, Wen_US
dc.contributor.authorHeyworth, Jen_US
dc.contributor.authorHogervorst, FBLen_US
dc.contributor.authorHollestelle, Aen_US
dc.contributor.authorHooning, MJen_US
dc.contributor.authorHoover, RNen_US
dc.contributor.authorHopper, JLen_US
dc.contributor.authorHuang, Gen_US
dc.contributor.authorHulick, PJen_US
dc.contributor.authorHumphreys, Ken_US
dc.contributor.authorImyanitov, ENen_US
dc.contributor.authorABCTB Investigatorsen_US
dc.contributor.authorHEBON Investigatorsen_US
dc.contributor.authorBCFR Investigatorsen_US
dc.contributor.authorOCGN Investigatorsen_US
dc.contributor.authorIsaacs, Cen_US
dc.contributor.authorJakimovska, Men_US
dc.contributor.authorJakubowska, Aen_US
dc.contributor.authorJames, Pen_US
dc.contributor.authorJanavicius, Ren_US
dc.contributor.authorJankowitz, RCen_US
dc.contributor.authorJohn, EMen_US
dc.contributor.authorJohnson, Nen_US
dc.contributor.authorJoseph, Ven_US
dc.contributor.authorJung, Aen_US
dc.contributor.authorKarlan, BYen_US
dc.contributor.authorKhusnutdinova, Een_US
dc.contributor.authorKiiski, JIen_US
dc.contributor.authorKonstantopoulou, Ien_US
dc.contributor.authorKristensen, VNen_US
dc.contributor.authorLaitman, Yen_US
dc.contributor.authorLambrechts, Den_US
dc.contributor.authorLazaro, Cen_US
dc.contributor.authorLeroux, Den_US
dc.contributor.authorLeslie, Gen_US
dc.contributor.authorLester, Jen_US
dc.contributor.authorLesueur, Fen_US
dc.contributor.authorLindor, Nen_US
dc.contributor.authorLindström, Sen_US
dc.contributor.authorLo, W-Yen_US
dc.contributor.authorLoud, JTen_US
dc.contributor.authorLubiński, Jen_US
dc.contributor.authorMakalic, Een_US
dc.contributor.authorMannermaa, Aen_US
dc.contributor.authorManoochehri, Men_US
dc.contributor.authorManoukian, Sen_US
dc.contributor.authorMargolin, Sen_US
dc.contributor.authorMartens, JWMen_US
dc.contributor.authorMartinez, MEen_US
dc.contributor.authorMatricardi, Len_US
dc.contributor.authorMaurer, Ten_US
dc.contributor.authorMavroudis, Den_US
dc.contributor.authorMcGuffog, Len_US
dc.contributor.authorMeindl, Aen_US
dc.contributor.authorMenon, Uen_US
dc.contributor.authorMichailidou, Ken_US
dc.contributor.authorKapoor, PMen_US
dc.contributor.authorMiller, Aen_US
dc.contributor.authorMontagna, Men_US
dc.contributor.authorMoreno, Fen_US
dc.contributor.authorMoserle, Len_US
dc.contributor.authorMulligan, AMen_US
dc.contributor.authorMuranen, TAen_US
dc.contributor.authorNathanson, KLen_US
dc.contributor.authorNeuhausen, SLen_US
dc.contributor.authorNevanlinna, Hen_US
dc.contributor.authorNevelsteen, Ien_US
dc.contributor.authorNielsen, FCen_US
dc.contributor.authorNikitina-Zake, Len_US
dc.contributor.authorOffit, Ken_US
dc.contributor.authorOlah, Een_US
dc.contributor.authorOlopade, OIen_US
dc.contributor.authorOlsson, Hen_US
dc.contributor.authorOsorio, Aen_US
dc.contributor.authorPapp, Jen_US
dc.contributor.authorPark-Simon, T-Wen_US
dc.contributor.authorParsons, MTen_US
dc.contributor.authorPedersen, ISen_US
dc.contributor.authorPeixoto, Aen_US
dc.contributor.authorPeterlongo, Pen_US
dc.contributor.authorPeto, Jen_US
dc.contributor.authorPharoah, PDPen_US
dc.contributor.authorPhillips, K-Aen_US
dc.contributor.authorPlaseska-Karanfilska, Den_US
dc.contributor.authorPoppe, Ben_US
dc.contributor.authorPradhan, Nen_US
dc.contributor.authorPrajzendanc, Ken_US
dc.contributor.authorPresneau, Nen_US
dc.contributor.authorPunie, Ken_US
dc.contributor.authorPylkäs, Ken_US
dc.contributor.authorRadice, Pen_US
dc.contributor.authorRantala, Jen_US
dc.contributor.authorRashid, MUen_US
dc.contributor.authorRennert, Gen_US
dc.contributor.authorRisch, HAen_US
dc.contributor.authorRobson, Men_US
dc.contributor.authorRomero, Aen_US
dc.contributor.authorSaloustros, Een_US
dc.contributor.authorSandler, DPen_US
dc.contributor.authorSantos, Cen_US
dc.contributor.authorSawyer, EJen_US
dc.contributor.authorSchmidt, MKen_US
dc.contributor.authorSchmidt, DFen_US
dc.contributor.authorSchmutzler, RKen_US
dc.contributor.authorSchoemaker, MJen_US
dc.contributor.authorScott, RJen_US
dc.contributor.authorSharma, Pen_US
dc.contributor.authorShu, X-Oen_US
dc.contributor.authorSimard, Jen_US
dc.contributor.authorSinger, CFen_US
dc.contributor.authorSkytte, A-Ben_US
dc.contributor.authorSoucy, Pen_US
dc.contributor.authorSouthey, MCen_US
dc.contributor.authorSpinelli, JJen_US
dc.contributor.authorSpurdle, ABen_US
dc.contributor.authorStone, Jen_US
dc.contributor.authorSwerdlow, AJen_US
dc.contributor.authorTapper, WJen_US
dc.contributor.authorTaylor, JAen_US
dc.contributor.authorTeixeira, MRen_US
dc.contributor.authorTerry, MBen_US
dc.contributor.authorTeulé, Aen_US
dc.contributor.authorThomassen, Men_US
dc.contributor.authorThöne, Ken_US
dc.contributor.authorThull, DLen_US
dc.contributor.authorTischkowitz, Men_US
dc.contributor.authorToland, AEen_US
dc.contributor.authorTollenaar, RAEMen_US
dc.contributor.authorTorres, Den_US
dc.contributor.authorTruong, Ten_US
dc.contributor.authorTung, Nen_US
dc.contributor.authorVachon, CMen_US
dc.contributor.authorvan Asperen, CJen_US
dc.contributor.authorvan den Ouweland, AMWen_US
dc.contributor.authorvan Rensburg, EJen_US
dc.contributor.authorVega, Aen_US
dc.contributor.authorViel, Aen_US
dc.contributor.authorVieiro-Balo, Pen_US
dc.contributor.authorWang, Qen_US
dc.contributor.authorWappenschmidt, Ben_US
dc.contributor.authorWeinberg, CRen_US
dc.contributor.authorWeitzel, JNen_US
dc.contributor.authorWendt, Cen_US
dc.contributor.authorWinqvist, Ren_US
dc.contributor.authorYang, XRen_US
dc.contributor.authorYannoukakos, Den_US
dc.contributor.authorZiogas, Aen_US
dc.contributor.authorMilne, RLen_US
dc.contributor.authorEaston, DFen_US
dc.contributor.authorChenevix-Trench, Gen_US
dc.contributor.authorZheng, Wen_US
dc.contributor.authorKraft, Pen_US
dc.contributor.authorJiang, Xen_US
dc.date.accessioned2020-04-02T15:12:31Z
dc.date.issued2020-07
dc.identifier.citationGenetic epidemiology, 2020, 44 (5), pp. 442 - 468
dc.identifier.issn0741-0395
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3578
dc.identifier.eissn1098-2272
dc.identifier.doi10.1002/gepi.22288
dc.description.abstractPrevious 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.
dc.formatPrint-Electronic
dc.format.extent442 - 468
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectGEMO Study Collaborators
dc.subjectEMBRACE Collaborators
dc.subjectGC-HBOC study Collaborators
dc.subjectABCTB Investigators
dc.subjectHEBON Investigators
dc.subjectBCFR Investigators
dc.subjectOCGN Investigators
dc.subjectHumans
dc.subjectBreast Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectVesicular Transport Proteins
dc.subjectReceptors, Estrogen
dc.subjectEstrogens
dc.subjectRisk Assessment
dc.subjectGenomics
dc.subjectFemale
dc.subjectGenome-Wide Association Study
dc.subjectTranscriptome
dc.titleTranscriptome-wide association study of breast cancer risk by estrogen-receptor status.
dc.typeJournal Article
dcterms.dateAccepted2020-02-13
rioxxterms.versionofrecord10.1002/gepi.22288
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2020-07
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfGenetic epidemiology
pubs.issue5
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology
pubs.publication-statusPublished
pubs.volume44
pubs.embargo.termsNot known
icr.researchteamAetiological Epidemiologyen_US
dc.contributor.icrauthorSchoemaker, Minouken


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