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dc.contributor.authorCouch, Fergus J
dc.contributor.authorKuchenbaecker, Karoline B
dc.contributor.authorMichailidou, Kyriaki
dc.contributor.authorMendoza-Fandino, Gustavo A
dc.contributor.authorNord, Silje
dc.contributor.authorLilyquist, Janna
dc.contributor.authorOlswold, Curtis
dc.contributor.authorHallberg, Emily
dc.contributor.authorAgata, Simona
dc.contributor.authorAhsan, Habibul
dc.contributor.authorAittomäki, Kristiina
dc.contributor.authorAmbrosone, Christine
dc.contributor.authorAndrulis, Irene L
dc.contributor.authorAnton-Culver, Hoda
dc.contributor.authorArndt, Volker
dc.contributor.authorArun, Banu K
dc.contributor.authorArver, Brita
dc.contributor.authorBarile, Monica
dc.contributor.authorBarkardottir, Rosa B
dc.contributor.authorBarrowdale, Daniel
dc.contributor.authorBeckmann, Lars
dc.contributor.authorBeckmann, Matthias W
dc.contributor.authorBenitez, Javier 
dc.contributor.authorBlank, Stephanie V
dc.contributor.authorBlomqvist, Carl
dc.contributor.authorBogdanova, Natalia V
dc.contributor.authorBojesen, Stig E
dc.contributor.authorBolla, Manjeet K
dc.contributor.authorBonanni, Bernardo
dc.contributor.authorBrauch, Hiltrud
dc.contributor.authorBrenner, Hermann
dc.contributor.authorBurwinkel, Barbara
dc.contributor.authorBuys, Saundra S
dc.contributor.authorCaldes, Trinidad
dc.contributor.authorCaligo, Maria A
dc.contributor.authorCanzian, Federico
dc.contributor.authorCarpenter, Jane
dc.contributor.authorChang-Claude, Jenny
dc.contributor.authorChanock, Stephen J
dc.contributor.authorChung, Wendy K
dc.contributor.authorClaes, Kathleen B M
dc.contributor.authorCox, Angela
dc.contributor.authorCross, Simon S
dc.contributor.authorCunningham, Julie M
dc.contributor.authorCzene, Kamila
dc.contributor.authorDaly, Mary B
dc.contributor.authorDamiola, Francesca
dc.contributor.authorDarabi, Hatef
dc.contributor.authorde la Hoya, Miguel
dc.contributor.authorDevilee, Peter
dc.contributor.authorDiez, Orland
dc.contributor.authorDing, Yuan C
dc.contributor.authorDolcetti, Riccardo
dc.contributor.authorDomchek, Susan M
dc.contributor.authorDorfling, Cecilia M
dc.contributor.authorDos-Santos-Silva, Isabel
dc.contributor.authorDumont, Martine
dc.contributor.authorDunning, Alison M
dc.contributor.authorEccles, Diana M
dc.contributor.authorEhrencrona, Hans
dc.contributor.authorEkici, Arif B
dc.contributor.authorEliassen, Heather
dc.contributor.authorEllis, Steve
dc.contributor.authorFasching, Peter A
dc.contributor.authorFigueroa, Jonine
dc.contributor.authorFlesch-Janys, Dieter
dc.contributor.authorFörsti, Asta
dc.contributor.authorFostira, Florentia
dc.contributor.authorFoulkes, William D
dc.contributor.authorFriebel, Tara
dc.contributor.authorFriedman, Eitan
dc.contributor.authorFrost, Debra
dc.contributor.authorGabrielson, Marike
dc.contributor.authorGammon, Marilie D
dc.contributor.authorGanz, Patricia A
dc.contributor.authorGapstur, Susan M
dc.contributor.authorGarber, Judy
dc.contributor.authorGaudet, Mia M
dc.contributor.authorGayther, Simon A
dc.contributor.authorGerdes, Anne-Marie
dc.contributor.authorGhoussaini, Maya
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.authorGonzález-Neira A, Anna 
dc.contributor.authorGreene, Mark H
dc.contributor.authorGronwald, Jacek
dc.contributor.authorGuénel, Pascal
dc.contributor.authorGunter, Marc
dc.contributor.authorHaeberle, Lothar
dc.contributor.authorHaiman, Christopher A
dc.contributor.authorHamann, Ute
dc.contributor.authorHansen, Thomas V O
dc.contributor.authorHart, Steven
dc.contributor.authorHealey, Sue
dc.contributor.authorHeikkinen, Tuomas
dc.contributor.authorHenderson, Brian E
dc.contributor.authorHerzog, Josef
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.authorHumphreys, Keith
dc.contributor.authorHunter, David J
dc.contributor.authorHuzarski, Tomasz
dc.contributor.authorImyanitov, Evgeny N
dc.contributor.authorIsaacs, Claudine
dc.contributor.authorJakubowska, Anna
dc.contributor.authorJames, Paul
dc.contributor.authorJanavicius, Ramunas
dc.contributor.authorJensen, Uffe Birk
dc.contributor.authorJohn, Esther M
dc.contributor.authorJones, Michael
dc.contributor.authorKabisch, Maria
dc.contributor.authorKar, Siddhartha
dc.contributor.authorKarlan, Beth Y
dc.contributor.authorKhan, Sofia
dc.contributor.authorKhaw, Kay-Tee
dc.contributor.authorKibriya, Muhammad G
dc.contributor.authorKnight, Julia A
dc.contributor.authorKo, Yon-Dschun
dc.contributor.authorKonstantopoulou, Irene
dc.contributor.authorKosma, Veli-Matti
dc.contributor.authorKristensen, Vessela
dc.contributor.authorKwong, Ava
dc.contributor.authorLaitman, Yael
dc.contributor.authorLambrechts, Diether
dc.contributor.authorLazaro, Conxi
dc.contributor.authorLee, Eunjung
dc.contributor.authorLe Marchand, Loic
dc.contributor.authorLester, Jenny
dc.contributor.authorLindblom, Annika
dc.contributor.authorLindor, Noralane
dc.contributor.authorLindstrom, Sara
dc.contributor.authorLiu, Jianjun
dc.contributor.authorLong, Jirong
dc.contributor.authorLubinski, Jan
dc.contributor.authorMai, Phuong L
dc.contributor.authorMakalic, Enes
dc.contributor.authorMalone, Kathleen E
dc.contributor.authorMannermaa, Arto
dc.contributor.authorManoukian, Siranoush
dc.contributor.authorMargolin, Sara
dc.contributor.authorMarme, Frederik
dc.contributor.authorMartens, John W M
dc.contributor.authorMcGuffog, Lesley
dc.contributor.authorMeindl, Alfons
dc.contributor.authorMiller, Austin
dc.contributor.authorMilne, Roger L
dc.contributor.authorMiron, Penelope
dc.contributor.authorMontagna, Marco
dc.contributor.authorMazoyer, Sylvie
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.authorNordestgaard, Børge G
dc.contributor.authorNussbaum, Robert L
dc.contributor.authorOffit, Kenneth
dc.contributor.authorOlah, Edith
dc.contributor.authorOlopade, Olufunmilayo I
dc.contributor.authorOlson, Janet E
dc.contributor.authorOsorio, Ana 
dc.contributor.authorPark, Sue K
dc.contributor.authorPeeters, Petra H
dc.contributor.authorPeissel, Bernard
dc.contributor.authorPeterlongo, Paolo
dc.contributor.authorPeto, Julian
dc.contributor.authorPhelan, Catherine M
dc.contributor.authorPilarski, Robert
dc.contributor.authorPoppe, Bruce
dc.contributor.authorPylkäs, Katri
dc.contributor.authorRadice, Paolo
dc.contributor.authorRahman, Nazneen
dc.contributor.authorRantala, Johanna
dc.contributor.authorRappaport, Christine
dc.contributor.authorRennert, Gad
dc.contributor.authorRichardson, Andrea
dc.contributor.authorRobson, Mark
dc.contributor.authorRomieu, Isabelle
dc.contributor.authorRudolph, Anja
dc.contributor.authorRutgers, Emiel J
dc.contributor.authorSanchez, Maria-Jose
dc.contributor.authorSantella, Regina M
dc.contributor.authorSawyer, Elinor J
dc.contributor.authorSchmidt, Daniel F
dc.contributor.authorSchmidt, Marjanka K
dc.contributor.authorSchmutzler, Rita K
dc.contributor.authorSchumacher, Fredrick
dc.contributor.authorScott, Rodney
dc.contributor.authorSenter, Leigha
dc.contributor.authorSharma, Priyanka
dc.contributor.authorSimard, Jacques
dc.contributor.authorSinger, Christian F
dc.contributor.authorSinilnikova, Olga M
dc.contributor.authorSoucy, Penny
dc.contributor.authorSouthey, Melissa
dc.contributor.authorSteinemann, Doris
dc.contributor.authorStenmark-Askmalm, Marie
dc.contributor.authorStoppa-Lyonnet, Dominique
dc.contributor.authorSwerdlow, Anthony
dc.contributor.authorSzabo, Csilla I
dc.contributor.authorTamimi, Rulla
dc.contributor.authorTapper, William
dc.contributor.authorTeixeira, Manuel R
dc.contributor.authorTeo, Soo-Hwang
dc.contributor.authorTerry, Mary B
dc.contributor.authorThomassen, Mads
dc.contributor.authorThompson, Deborah
dc.contributor.authorTihomirova, Laima
dc.contributor.authorToland, Amanda E
dc.contributor.authorTollenaar, Robert A E M
dc.contributor.authorTomlinson, Ian
dc.contributor.authorTruong, Thérèse
dc.contributor.authorTsimiklis, Helen
dc.contributor.authorTeulé, Alex
dc.contributor.authorTumino, Rosario
dc.contributor.authorTung, Nadine
dc.contributor.authorTurnbull, Clare
dc.contributor.authorUrsin, Giski
dc.contributor.authorvan Deurzen, Carolien H M
dc.contributor.authorvan Rensburg, Elizabeth J
dc.contributor.authorVaron-Mateeva, Raymonda
dc.contributor.authorWang, Zhaoming
dc.contributor.authorWang-Gohrke, Shan
dc.contributor.authorWeiderpass, Elisabete
dc.contributor.authorWeitzel, Jeffrey N
dc.contributor.authorWhittemore, Alice
dc.contributor.authorWildiers, Hans
dc.contributor.authorWinqvist, Robert
dc.contributor.authorYang, Xiaohong R
dc.contributor.authorYannoukakos, Drakoulis
dc.contributor.authorYao, Song
dc.contributor.authorZamora, M Pilar
dc.contributor.authorZheng, Wei
dc.contributor.authorHall, Per
dc.contributor.authorKraft, Peter
dc.contributor.authorVachon, Celine
dc.contributor.authorSlager, Susan
dc.contributor.authorChenevix-Trench, Georgia
dc.contributor.authorPharoah, Paul D P
dc.contributor.authorMonteiro, Alvaro A N
dc.contributor.authorGarcía-Closas, Montserrat
dc.contributor.authorEaston, Douglas F
dc.contributor.authorAntoniou, Antonis C
dc.date.accessioned2019-07-08T10:55:47Z
dc.date.available2019-07-08T10:55:47Z
dc.date.issued2016
dc.identifier.citationNat Commun. 2016;7:11375.es_ES
dc.identifier.issn2041-1723es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/7867
dc.description.abstractCommon variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for ∼11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.es_ES
dc.description.sponsorshipWe thank all the researchers and administrative staff who have enabled this work to be carried out and all of the individuals who took part in these studies.B.C.A.C. was funded through a European Community Seventh Framework Pro-gramme under grant agreement no 223175 (HEALTH-F2-2009-223175; COGS); Cancer Research UK (C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384,C504/A15007, C5047/A10692); the National Institutes of Health Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), R01 grants(CA128978, CA176785, CA192393), and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112 - the GAME-ON initiative); the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, the Breast Cancer Res. Foundation, and the Ovarian Cancer ResearchFund. CIMBA genotyping was supported by National Institutes of Health grant(CA128978); the Department of Defence (W81XWH-10-1-0341); and the Breast Cancer Res. Foundation. CIMBA data management and data analysis were supported by Cancer Research UK grants C12292/A11174 and C1287/A10118. This study made use of data generated by the Wellcome Trust Case Control consortium. Functional studies were supported by the Florida Breast Cancer Foundation. A full description of funding and acknowledgments is provided in Supplementary Note 1.es_ES
dc.language.isoenges_ES
dc.publisherNature Publishing Groupes_ES
dc.relation.isversionofPublisher's versiones_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.subject.meshBRCA1 Protein es_ES
dc.subject.meshBreast Neoplasms es_ES
dc.subject.meshChromosomes, Human, Pair 2 es_ES
dc.subject.meshCyclophilins es_ES
dc.subject.meshFemale es_ES
dc.subject.meshGenetic Predisposition to Disease es_ES
dc.subject.meshGenome-Wide Association Study es_ES
dc.subject.meshGenotype es_ES
dc.subject.meshHeterozygote es_ES
dc.subject.meshHumans es_ES
dc.subject.meshMutation es_ES
dc.subject.meshPolymorphism, Single Nucleotidees_ES
dc.subject.meshReceptors, Estrogenes_ES
dc.subject.meshRisk Factors es_ES
dc.subject.meshtRNA Methyltransferases es_ES
dc.titleIdentification of four novel susceptibility loci for oestrogen receptor negative breast canceres_ES
dc.typeArtículoes_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.identifier.pubmedID27117709es_ES
dc.format.volume7es_ES
dc.format.number1es_ES
dc.format.page11375es_ES
dc.identifier.doi10.1038/ncomms11375es_ES
dc.contributor.funderEuropean Community Seventh Framework Programmees_ES
dc.contributor.funderCancer Research (UK)es_ES
dc.contributor.funderNational Institutes of Health (United States)es_ES
dc.contributor.funderCanadian Institutes of Health Research (CIHR)es_ES
dc.contributor.funderFlorida Breast Cancer Foundation (United States)es_ES
dc.description.peerreviewedes_ES
dc.identifier.e-issn2041-1723es_ES
dc.relation.publisherversionhttps://doi.org/10.1038/ 10.1038/ncomms11375es_ES
dc.identifier.journalNature communicationses_ES
dc.repisalud.institucionCNIOes_ES
dc.repisalud.orgCNIOCNIO::Grupos de investigación::Grupo de Genética Humanaes_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/EC/FP7/223175es_ES
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses_ES


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