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Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

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dc.contributor.authorBogdanova, Natalia V.
dc.contributor.authorBojesen, Stig E.
dc.contributor.authorBonanni , Bernardo
dc.contributor.authorBondavalli, Davide
dc.contributor.authorBorg, Ake
dc.contributor.authorBrauch, Hiltrud
dc.contributor.authorBrenner, Hermann
dc.contributor.authorBriceño Balcázar, Ignacio
dc.contributor.authorBroeks, Annegien
dc.contributor.authorBrucker, Sara Y.
dc.contributor.authorBrüning, Thomas
dc.contributor.authorBurwinkel, Barbara
dc.contributor.authorBuys, Saundra S.
dc.contributor.authorByers, Helen
dc.contributor.authorCaldés, Trinidad
dc.contributor.authorCaligo, Maria A.
dc.contributor.authorCalvello, Mariarosaria
dc.contributor.authorCampa, Daniele
dc.contributor.authorCastelao, Jose E.
dc.contributor.authorChang-Claude, Jenny
dc.contributor.authorChanock, Stephen J.
dc.contributor.authorChristiaens, Melissa
dc.contributor.authorChristiansen, Hans
dc.contributor.authorChung, Wendy K.
dc.contributor.authorClaes, Kathleen B. M.
dc.contributor.authorClarke, Christine L.
dc.contributor.authorCornelissen, Sten
dc.contributor.authorCouch, Fergus J.
dc.contributor.authorCox, Angela
dc.contributor.authorCross, Simon S.
dc.contributor.authorCzene, Kamila
dc.contributor.authorDaly, Mary B.
dc.contributor.authorDevilee, Peter
dc.contributor.authorDiez, Orland
dc.contributor.authorDomchek, Susan M.
dc.contributor.authorDörk, Thilo
dc.contributor.authorDwek, Miriam
dc.contributor.authorEccles, Diana M.
dc.contributor.authorEkici, Arif B.
dc.contributor.authorEvans, D. Gareth
dc.contributor.authorFasching, Peter A.
dc.contributor.authorFigueroa, Jonine
dc.contributor.authorForetova, Lenka
dc.contributor.authorFostira, Florentia
dc.contributor.authorFriedman, Eitan
dc.contributor.authorFrost, Debra
dc.contributor.authorGago-Dominguez, Manuela
dc.contributor.authorGapstur, Susan M.
dc.contributor.authorGarber, Judy
dc.contributor.authorGarcía-Sáenz, José A.
dc.contributor.authorGaudet, Mia M.
dc.contributor.authorGayther, Simon A.
dc.contributor.authorGiles, Graham G.
dc.contributor.authorGodwin, Andrew K.
dc.contributor.authorGoldberg, Mark S.
dc.contributor.authorGoldgar, David E.
dc.contributor.authorGonzález-Neira, Anna
dc.contributor.authorGreene, Mark H.
dc.contributor.authorGronwald, Jacek
dc.contributor.authorGuénel, Pascal
dc.contributor.authorHäberle, Lothar
dc.contributor.authorHahnen, Eric
dc.contributor.authorHaiman, Christopher A.
dc.contributor.authorHake, Christopher R.
dc.contributor.authorHall, Per
dc.contributor.authorHamann, Ute
dc.contributor.authorHarkness, Elaine F.
dc.contributor.authorHeemskerk-Gerritsen, Bernadette A. M.
dc.contributor.authorHillemanns, Peter
dc.contributor.authorHogervorst, Frans B. L.
dc.contributor.authorHolleczek, Bernd
dc.contributor.authorHollestelle, Antoinette
dc.contributor.authorHooning, Maartje J.
dc.contributor.authorHoover, Robert N.
dc.contributor.authorHopper, John L.
dc.contributor.authorHowell, Anthony
dc.contributor.authorHuebner, Hanna
dc.contributor.authorHulick, Peter J.
dc.contributor.authorImyanitov, Evgeny N.
dc.contributor.authorkConFab Investigators
dc.contributor.authorABCTB Investigators
dc.contributor.authorIsaacs, Claudine
dc.contributor.authorIzatt, Louise
dc.contributor.authorJager, Agnes
dc.contributor.authorJakimovska, Milena
dc.contributor.authorJakubowska, Anna
dc.contributor.authorJames, Paul A.
dc.contributor.authorJanavicius, Ramunas
dc.contributor.authorJanni, Wolfgang
dc.contributor.authorJohn, Esther M.
dc.contributor.authorJones, Michael E.
dc.contributor.authorJung, Audrey
dc.contributor.authorKaaks, Rudolf
dc.contributor.authorKapoor, Pooja Middha
dc.contributor.authorKarlan, Beth Y.
dc.contributor.authorKeeman, Renske
dc.contributor.authorKhan, Sofia
dc.contributor.authorKhusnutdinova, Elza
dc.contributor.authorKitahara, Cari M.
dc.contributor.authorKo, Yon-Dschun
dc.contributor.authorKonstantopoulou, Irene
dc.contributor.authorKoppert, Linetta B.
dc.contributor.authorKoutros, Stella
dc.contributor.authorKristensen, Vessela N.
dc.contributor.authorLaenkholm, Anne-Vibeke
dc.contributor.authorLambrechts, Diether
dc.contributor.authorLarsson, Susanna C
dc.contributor.authorLaurent-Puig, Pierre
dc.contributor.authorLazaro, Conxi
dc.contributor.authorLazarova, Emilija
dc.contributor.authorLejbkowicz, Flavio
dc.contributor.authorLeslie, Goska
dc.contributor.authorLesueur, Fabienne
dc.contributor.authorLindblom, Annika
dc.contributor.authorLissowska, Jolanta
dc.contributor.authorLo, Wing-Yee
dc.contributor.authorLoud, Jennifer T.
dc.contributor.authorLubinski, Jan
dc.contributor.authorLukomska, Alicja
dc.contributor.authorMacInnis, Robert J.
dc.contributor.authorMannermaa, Arto
dc.contributor.authorManoochehri, Mehdi
dc.contributor.authorManoukian, Siranoush
dc.contributor.authorMargolin, Sara
dc.contributor.authorMartinez, Maria Elena
dc.contributor.authorMatricardi, Laura
dc.contributor.authorMcGuffog, Lesley
dc.contributor.authorMcLean, Catriona
dc.contributor.authorMebirouk, Noura
dc.contributor.authorMeindl, Alfons
dc.contributor.authorMenon, Usha
dc.contributor.authorMiller, Austin
dc.contributor.authorMingazheva, Elvira
dc.contributor.authorMontagna, Marco
dc.contributor.authorMulligan, Anna Marie
dc.contributor.authorMulot, Claire
dc.contributor.authorMuranen, Taru A.
dc.contributor.authorNathanson, Katherine L.
dc.contributor.authorNeuhausen, Susan L.
dc.contributor.authorNevanlinna, Heli
dc.contributor.authorNeven, Patrick
dc.contributor.authorNewman, William G.
dc.contributor.authorNielsen, Finn C.
dc.contributor.authorNikitina-Zake, Liene
dc.contributor.authorNodora, Jesse
dc.contributor.authorOffit, Kenneth
dc.contributor.authorOlah, Edith
dc.contributor.authorOlopade, Olufunmilayo I.
dc.contributor.authorOlsson, Håkan
dc.contributor.authorOrr, Nick
dc.contributor.authorPapi, Laura
dc.contributor.authorPapp, Janos
dc.contributor.authorPark-Simon, Tjoung-Won
dc.contributor.authorParsons, Michael T.
dc.contributor.authorPeissel, Bernard
dc.contributor.authorPeixoto, Sergio V.
dc.contributor.authorPeshkin, Beth
dc.contributor.authorPeterlongo, Paolo
dc.contributor.authorPeto, Julian
dc.contributor.authorPhillips, Kelly-Anne
dc.contributor.authorPiedmonte, Marion
dc.contributor.authorPlaseska-Karanfilska, Dijana
dc.contributor.authorPrajzendanc, Karolina
dc.contributor.authorPrentice, Ross
dc.contributor.authorProkofyeva, Darya
dc.contributor.authorRack, Brigitte
dc.contributor.authorRadice, Paolo
dc.contributor.authorRamus, Susan J.
dc.contributor.authorRantala, Johanna
dc.contributor.authorRashid, Muhammad U.
dc.contributor.authorRennert, Gad
dc.contributor.authorRennert, Gad
dc.contributor.authorRisch, Harvey A.
dc.contributor.authorRomero , Atocha
dc.contributor.authorRookus, Matti A.
dc.contributor.authorRübner, Matthias
dc.contributor.authorRüdiger, Thomas
dc.contributor.authorSaloustros, Emmanouil
dc.contributor.authorSampson, Sarah
dc.contributor.authorSandler, Dale P.
dc.contributor.authorSawyer, Elinor J.
dc.contributor.authorScheuner, Maren T.
dc.contributor.authorSchmutzler, Rita K.
dc.contributor.authorSchneeweiss, Andreas
dc.contributor.authorSchoemaker, Minouk J.
dc.contributor.authorSchöttker, Ben
dc.contributor.authorSchürmann, Peter
dc.contributor.authorSenter, Leigha
dc.contributor.authorSharma, Priyanka
dc.contributor.authorSherman, Mark E.
dc.contributor.authorShu, Xiao-Ou
dc.contributor.authorSinger, Christian F.
dc.contributor.authorSmichkoska, Snezhana
dc.contributor.authorSoucy, Penny
dc.contributor.authorSouthey, Melissa C.
dc.contributor.authorSpinelli, John J.
dc.contributor.authorStone, Jennifer
dc.contributor.authorStoppa-Lyonnet, Dominique
dc.contributor.authorEMBRACE Study
dc.contributor.authorGEMO Study Collaborators
dc.contributor.authorSwerdlow, Anthony J.
dc.contributor.authorSzabova, Elena
dc.contributor.authorTamimi, Rulla M.
dc.contributor.authorTapper, William J.
dc.contributor.authorTaylor, Jack A.
dc.contributor.authorTeixeira, Manuel R.
dc.contributor.authorTerry, Mary Beth
dc.contributor.authorThomassen, Mads
dc.contributor.authorThull, Darcy L.
dc.contributor.authorTischkowitz, Marc
dc.contributor.authorToland, Amanda E.
dc.contributor.authorTollenaar, Rob A.E.M.
dc.contributor.authorTomlinson, Ian
dc.contributor.authorTorres-López, Diana María
dc.contributor.authorTroester, Melissa A.
dc.contributor.authorTruong, Thérèse
dc.contributor.authorTung, Nadine
dc.contributor.authorUntch, Michae
dc.contributor.authorVachon, Celine M.
dc.contributor.authorvan den Ouweland, Ans M. W.
dc.contributor.authorvan der Kolk, Lizet E.
dc.contributor.authorvan Veen, Elke M.
dc.contributor.authorvanRensburg, Elizabeth J.
dc.contributor.authorVega, Ana
dc.contributor.authorWappenschmidt, Barbara
dc.contributor.authorWeinberg, Clarice R.
dc.contributor.authorWeitzel, Jeffrey N.
dc.contributor.authorWildiers, Hans
dc.contributor.authorWinqvist, Robert
dc.contributor.authorWolk, Alicja
dc.contributor.authorYang, Xiaohong R.
dc.contributor.authorYannoukakos, Drakoulis
dc.contributor.authorZheng, Wei
dc.contributor.authorZorn, Kristin K.
dc.contributor.authorMilne, Roger L.
dc.contributor.authorKraft, Peter
dc.contributor.authorSimard , Jacques
dc.contributor.authorPharoah , Paul D. P.
dc.contributor.authorMichailidou, Kyriaki
dc.contributor.authorAntoniou, Antonis C.
dc.contributor.authorSchmidt, Marjanka K.
dc.contributor.authorChenevix-Trench, Georgia
dc.contributor.authorEaston, Douglas F.
dc.contributor.authorChatterjee, Nilanjan
dc.contributor.authorGarcía-Closas, Montserrat
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humanaspa
dc.contributor.javerianateacherBriceño Balcázar, Ignacio
dc.contributor.javerianateacherTorres-López, Diana María
dc.date.accessioned2023-03-22T15:44:02Z
dc.date.available2023-03-22T15:44:02Z
dc.date.created2020-05-18
dc.description.abstractenglishBreast 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< 5.0 × 10−8), 15 of which showed evidence for associations with at least one tumor feature (false discovery rate < 0.05). Five loci showed associations (P< 0.05) in opposite directions between luminal and non-luminal subtypes. In silico analyses showed that these five loci contained cell-specific enhancers that differed between normal luminal and basal mammary cells. The genetic correlations between five intrinsic-like subtypes ranged from 0.35 to 0.80. The proportion of genome-wide chip heritability explained by all known susceptibility loci was 54.2% for luminal A-like disease and 37.6% for triple-negative disease. The odds ratios of polygenic risk scores, which included 330 variants, for the highest 1% of quantiles compared with middle quantiles were 5.63 and 3.02 for luminal A-like and triple-negative disease, respectively. These findings provide an improved understanding of genetic predisposition to breast cancer subtypes and will inform the development of subtype-specific polygenic risk scores.spa
dc.description.comunidadMujeres con Cáncer de mamaspa
dc.description.esciNospa
dc.description.indexingRevista Internacional - Indexadaspa
dc.description.orcidhttps://orcid.org/0000-0001-7300-6401spa
dc.description.orcidhttps://orcid.org/0000-0002-9879-9775spa
dc.description.publindexA1spa
dc.description.quartilescopusQ1spa
dc.description.quartilewosQ1spa
dc.formatPDFspa
dc.format.mimetypeapplication/pdfspa
dc.identifierhttps://revistas.javeriana.edu.co/index.php/revPsycho/article/view/21878spa
dc.identifier.doihttps://doi.org/10.1038/s41588-020-0609-2spa
dc.identifier.instnameinstname:Pontificia Universidad Javerianaspa
dc.identifier.issn1061-4036 / 1546-1718 (Electrónico)spa
dc.identifier.reponamereponame:Repositorio Institucional - Pontificia Universidad Javerianaspa
dc.identifier.repourlrepourl:https://repository.javeriana.edu.cospa
dc.identifier.urihttp://hdl.handle.net/10554/63882
dc.language.isoengspa
dc.relation.citationendpage581spa
dc.relation.citationissue6spa
dc.relation.citationstartpage572spa
dc.relation.citationvolume52spa
dc.relation.ispartofjournalNature Geneticsspa
dc.rights.coarhttp://purl.org/coar/access_right/c_abf2spa
dc.rights.licenceAtribución-NoComercial 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.titleGenome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analysesspa
dc.type.coarhttp://purl.org/coar/resource_type/c_545bspa
dc.type.hasversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.localArtículo de revistaspa

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