Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

dc.contributor.authorFeng, Helian
dc.contributor.authorGusev, Alexander
dc.contributor.authorPasaniuc, Bogdan
dc.contributor.authorWu, Lang
dc.contributor.authorLong, Jirong
dc.contributor.authorAbu-full, Zomoroda
dc.contributor.authorAittomäki, Kristiina
dc.contributor.authorAndrulis, Irene L.
dc.contributor.authorAnton-Culver, Hoda
dc.contributor.authorAntoniou, Antonis C.
dc.contributor.authorArason, Adalgeir
dc.contributor.authorArndt, Volker
dc.contributor.authorAronson, Kristan J.
dc.contributor.authorArun, Banu K.
dc.contributor.authorAsseryanis, Ella
dc.contributor.authorAuer, Paul L.
dc.contributor.authorAzzollini, Jacopo
dc.contributor.authorBalmana, Judith
dc.contributor.authorBarkardottir, Rosa B.
dc.contributor.authorBarnes, Daniel R.
dc.contributor.authorBarrowdale, Daniel
dc.contributor.authorBeckmann, Matthias W.
dc.contributor.authorBehrens, Sabine
dc.contributor.authorBenitez, Javier
dc.contributor.authorBermisheva, Marina
dc.contributor.authorBiałkowska, Katarzyna
dc.contributor.authorBlanco, Ana
dc.contributor.authorBlomqvist, Carl
dc.contributor.authorBoeckx, Bram
dc.contributor.authorBogdanova, Natalia V.
dc.contributor.authorBojesen, Stig E.
dc.contributor.authorBolla, Manjeet K.
dc.contributor.authorBonanni, Bernardo
dc.contributor.authorBorg, Ake
dc.contributor.authorBrauch, Hiltrud
dc.contributor.authorBrenner, Hermann
dc.contributor.authorBriceno, Ignacio
dc.contributor.authorBroeks, Annegien
dc.contributor.authorBruning, Thomas
dc.contributor.authorBurwinkel, Barbara
dc.contributor.authorCai, Qiuyin
dc.contributor.authorCaldés, Trinidad.
dc.contributor.authorCaligo, Maria A.
dc.contributor.authorCampbell, Ian
dc.contributor.authorCanisius, Sander
dc.contributor.authorCampa, Daniele
dc.contributor.authorCarter, Brian D.
dc.contributor.authorCarter, Jonathan
dc.contributor.authorCastelao, Jose E.
dc.contributor.authorChang-Claude, Jenny
dc.contributor.authorChanock, Stephen J.
dc.contributor.authorChristiansen, Hans
dc.contributor.authorChung, Wendy K.
dc.contributor.authorClaes, Kathleen B.M.
dc.contributor.authorClarke, Christine L.
dc.contributor.authorCouch, Fergus J.
dc.contributor.authorCox, Angela
dc.contributor.authorCross, Simon S.
dc.contributor.authorCybulski, Cezary
dc.contributor.authorCzene, Kamila
dc.contributor.authorDaly, Mary B.
dc.contributor.authorDe la Hoya, Miguel
dc.contributor.authorDe Leeneer, Kim
dc.contributor.authorDennis, Joe
dc.contributor.authorDevilee, Peter
dc.contributor.authorDiez, Orland
dc.contributor.authorDomchek, Susan M.
dc.contributor.authorDork, Thilo
dc.contributor.authorDos-Santos-Silva, Isabel
dc.contributor.authorDunning, Alison M.
dc.contributor.authorDwek, Miriam
dc.contributor.authorEccles, Diana M.
dc.contributor.authorEjlertsen, Bent
dc.contributor.authorEllberg, Carolina
dc.contributor.authorEngel, Christoph
dc.contributor.authorEriksson, Mikael
dc.contributor.authorFasching, Peter A.
dc.contributor.authorFletcher, Olivia
dc.contributor.authorFlyger, Henrik
dc.contributor.authorFostira, Florentia
dc.contributor.authorFriedman, Eitan
dc.contributor.authorFritschi, Lin
dc.contributor.authorFrost, Debra
dc.contributor.authorGabrielson, Marike
dc.contributor.authorGanz, Patricia A.
dc.contributor.authorGapstur, Susan M.
dc.contributor.authorGarber, Judy
dc.contributor.authorGarcia-Closas, Montserrat
dc.contributor.authorGarcia-Saenz, Jose A.
dc.contributor.authorGaudet, Mia M.
dc.contributor.authorGiles, Graham G.
dc.contributor.authorGlendon, Gord
dc.contributor.authorGodwin, Andrew K.
dc.contributor.authorGoldberg, Mark S.
dc.contributor.authorGoldgar, David E.
dc.contributor.authorGonzalez-Neira, Anna
dc.contributor.authorGreene, Mark H.
dc.contributor.authorGronwald, Jacek
dc.contributor.authorGuénel, Pascal
dc.contributor.authorHaiman, Christopher A.
dc.contributor.authorHall, Per
dc.contributor.authorHamann, Ute
dc.contributor.authorHake, Christopher
dc.contributor.authorHe, Wei
dc.contributor.authorHeyworth, Jane
dc.contributor.authorHogervorst, Frans B.L.
dc.contributor.authorHollestelle, Antoinette
dc.contributor.authorHooning, Maartje J.
dc.contributor.authorHoover, Robert N.
dc.contributor.authorHopper, John L.
dc.contributor.authorHuang, Guanmengqian
dc.contributor.authorHumphreys, Keith
dc.contributor.authorImyanitov, Evgeny N.
dc.contributor.authorIsaacs, Claudine
dc.contributor.authorJakimovska, Milena
dc.contributor.authorJakubowska, Anna
dc.contributor.authorJames, Paul
dc.contributor.authorJanavicius, Ramunas
dc.contributor.authorJankowitz, Rachel C.
dc.contributor.authorJohn, Esther M.
dc.contributor.authorJohnson, Nichola
dc.contributor.authorJoseph, Vijai
dc.contributor.authorJung, Audrey
dc.contributor.authorKarlan, Beth Y.
dc.contributor.authorKhusnutdinova, Elza
dc.contributor.authorKiiski, Johanna I.
dc.contributor.authorKonstantopoulou, Irene
dc.contributor.authorKristensen, Vessela
dc.contributor.authorLaitman, Yael
dc.contributor.authorLambrechts, Diether
dc.contributor.authorLazaro, Conxi
dc.contributor.authorLeroux, Dominique
dc.contributor.authorLeslie, Goska
dc.contributor.authorLester, Jenny
dc.contributor.authorLesueur, Fabienne
dc.contributor.authorLindor, Noralane
dc.contributor.authorLindstrom, Sara
dc.contributor.authorLo, Wing-Yee
dc.contributor.authorLoud, Jennifer T.
dc.contributor.authorLubinski, Jan
dc.contributor.authorMakalic, Enes
dc.contributor.authorMannermaa, Arto
dc.contributor.authorManoochehri, Mehdi
dc.contributor.authorManoukian, Siranoush
dc.contributor.authorMargolin, Sara
dc.contributor.authorMartens, John W.M.
dc.contributor.authorMartinez, Maria E.
dc.contributor.authorMatricardi, Laura
dc.contributor.authorMaurer, Tabea
dc.contributor.authorMavroudis, Dimitrios
dc.contributor.authorMcGuffog, Lesley
dc.contributor.authorMeindl, Alfons
dc.contributor.authorMenon, Usha
dc.contributor.authorMichailidou, Kyriaki
dc.contributor.authorKapoor, Pooja M.
dc.contributor.authorMiller, Austin
dc.contributor.authorMontagna, Marco
dc.contributor.authorMoreno, Fernando
dc.contributor.authorMoserle, Lidia
dc.contributor.authorMulligan, Anna M.
dc.contributor.authorMuranen, Taru A.
dc.contributor.authorNathanson, Katherine L.
dc.contributor.authorNeuhausen, Susan L.
dc.contributor.authorNevanlinna, Heli
dc.contributor.authorNevelsteen, Ines
dc.contributor.authorNielsen, Finn C.
dc.contributor.authorNikitina-Zake, Liene
dc.contributor.authorOffit, Kenneth
dc.contributor.authorOlah, Edith
dc.contributor.authorOlopade, Olufunmilayo I.
dc.contributor.authorOlsson, Hakan
dc.contributor.authorOsorio, Ana
dc.contributor.authorPapp, Janos
dc.contributor.authorPark-Simon, Tjoung-Won
dc.contributor.authorParsons, Michael T.
dc.contributor.authorPedersen, Inge S.
dc.contributor.authorPeixoto, Ana
dc.contributor.authorPeterlongo, Paolo
dc.contributor.authorPeto, Julian
dc.contributor.authorPharoah, Paul D.P.
dc.contributor.authorPhillips, Kelly-Anne
dc.contributor.authorPlaseska-Karanfilska, Dijana
dc.contributor.authorPoppe, Bruce
dc.contributor.authorPradhan, Nisha
dc.contributor.authorPrajzendanc, Karolina
dc.contributor.authorPresneau, Nadege
dc.contributor.authorPunie, Kevin
dc.contributor.authorPylkäs, Katri
dc.contributor.authorRadice, Paolo
dc.contributor.authorRantala, Johanna
dc.contributor.authorRashid, Muhammad Usman
dc.contributor.authorRennert, Gad
dc.contributor.authorRisch, Harvey A.
dc.contributor.authorRobson, Mark
dc.contributor.authorRomero, Atocha
dc.contributor.authorSaloustros, Emmanouil
dc.contributor.authorSandler, Dale P.
dc.contributor.authorSantos, Catarina
dc.contributor.authorSawyer, Elinor J.
dc.contributor.authorSchmidt, Marjanka K.
dc.contributor.authorSchmidt, Daniel F.
dc.contributor.authorSchmutzler, Rita K.
dc.contributor.authorSchoemaker, Minouk J.
dc.contributor.authorScott, Rodney J.
dc.contributor.authorSharma, Priyanka
dc.contributor.authorShu, Xiao-Ou
dc.contributor.authorSimard, Jacques
dc.contributor.authorSinger, Christian F.
dc.contributor.authorSkytte, Anne-Bine
dc.contributor.authorSoucy, Penny
dc.contributor.authorSouthey, Melissa C.
dc.contributor.authorSpinelli, John J.
dc.contributor.authorSpurdle, Amanda B.
dc.contributor.authorStone, Jennifer
dc.contributor.authorSwerdlow, Anthony J.
dc.contributor.authorTapper, William J.
dc.contributor.authorTaylor, Jack A.
dc.contributor.authorTeixeira, Manuel R.
dc.contributor.authorTerry, Mary Beth
dc.contributor.authorTeule, Alex
dc.contributor.authorThomassen, Mads
dc.contributor.authorThöne, Kathrin
dc.contributor.authorThull, Darcy L.
dc.contributor.authorTischkowitz, Marc
dc.contributor.authorToland, Amanda E.
dc.contributor.authorTollenaar, Rob A.E.M.
dc.contributor.authorTorres, Diana
dc.contributor.authorTruong, Therese
dc.contributor.authorTung, Nadine
dc.contributor.authorVachon, Celine M.
dc.contributor.authorVan den Ouweland, Ans M.W.
dc.contributor.authorVan Asperen, Christi J.
dc.contributor.authorJansen van Rensburg, Elizabeth
dc.contributor.authorVega, Ana
dc.contributor.authorViel, Alessandra
dc.contributor.authorVieiro-Balo, Paula
dc.contributor.authorWang, Qin
dc.contributor.authorWappenschmidt, Barbara
dc.contributor.authorWeinberg, Clarice R.
dc.contributor.authorWeitzel, Jeffrey N.
dc.contributor.authorWendt, Camilla
dc.contributor.authorWinqvist, Robert
dc.contributor.authorYang, Xiaohong R.
dc.contributor.authorYannoukakos, Drakoulis
dc.contributor.authorZiogas, Argyrios
dc.contributor.authorMilne, Roger L.
dc.contributor.authorEaston., Douglas F.
dc.contributor.authorChenevix-Trench, Georgia
dc.contributor.authorZheng, Wei
dc.contributor.authorKraft, Peter
dc.contributor.authorJiang, Xia
dc.date.accessioned2021-06-02T07:42:32Z
dc.date.available2021-06-02T07:42:32Z
dc.date.issued2020-07
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.en_ZA
dc.description.departmentGeneticsen_ZA
dc.description.librarianpm2021en_ZA
dc.description.urihttps://onlinelibrary.wiley.com/journal/10982272en_ZA
dc.identifier.citationFeng, H., Gusev, A., Pasaniuc, B. et al. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. Genetic Epidemiology 2020;44(5): 442-468. doi:10.1002/gepi.22288.en_ZA
dc.identifier.issn0741-0395 (print)
dc.identifier.issn1098-2272 (online)
dc.identifier.other10.1002/gepi.22288
dc.identifier.urihttp://hdl.handle.net/2263/80193
dc.language.isoenen_ZA
dc.publisherWileyen_ZA
dc.rights© 2020 The Authors. Genetic Epidemiology published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License.en_ZA
dc.subjectBreast cancer subtypeen_ZA
dc.subjectCausal geneen_ZA
dc.subjectTranscriptome-wide association studies (TWAS)en_ZA
dc.subjectGenome-wide association studies (GWAS)en_ZA
dc.titleTranscriptome-wide association study of breast cancer risk by estrogen-receptor statusen_ZA
dc.typeArticleen_ZA

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