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dc.contributor.authorCouch, FJen
dc.contributor.authorKuchenbaecker, KBen
dc.contributor.authorMichailidou, Ken
dc.contributor.authorMendoza-Fandino, GAen
dc.contributor.authorNord, Sen
dc.contributor.authorLilyquist, Jen
dc.contributor.authorOlswold, Cen
dc.contributor.authorHallberg, Een
dc.contributor.authorAgata, Sen
dc.contributor.authorAhsan, Hen
dc.contributor.authorAittomäki, Ken
dc.contributor.authorAmbrosone, Cen
dc.contributor.authorAndrulis, ILen
dc.contributor.authorAnton-Culver, Hen
dc.contributor.authorArndt, Ven
dc.contributor.authorArun, BKen
dc.contributor.authorArver, Ben
dc.contributor.authorBarile, Men
dc.contributor.authorBarkardottir, RBen
dc.contributor.authorBarrowdale, Den
dc.contributor.authorBeckmann, Len
dc.contributor.authorBeckmann, MWen
dc.contributor.authorBenitez, Jen
dc.contributor.authorBlank, SVen
dc.contributor.authorBlomqvist, Cen
dc.contributor.authorBogdanova, NVen
dc.contributor.authorBojesen, SEen
dc.contributor.authorBolla, MKen
dc.contributor.authorBonanni, Ben
dc.contributor.authorBrauch, Hen
dc.contributor.authorBrenner, Hen
dc.contributor.authorBurwinkel, Ben
dc.contributor.authorBuys, SSen
dc.contributor.authorCaldes, Ten
dc.contributor.authorCaligo, MAen
dc.contributor.authorCanzian, Fen
dc.contributor.authorCarpenter, Jen
dc.contributor.authorChang-Claude, Jen
dc.contributor.authorChanock, SJen
dc.contributor.authorChung, WKen
dc.contributor.authorClaes, KBMen
dc.contributor.authorCox, Aen
dc.contributor.authorCross, SSen
dc.contributor.authorCunningham, JMen
dc.contributor.authorCzene, Ken
dc.contributor.authorDaly, MBen
dc.contributor.authorDamiola, Fen
dc.contributor.authorDarabi, Hen
dc.contributor.authorde la Hoya, Men
dc.contributor.authorDevilee, Pen
dc.contributor.authorDiez, Oen
dc.contributor.authorDing, YCen
dc.contributor.authorDolcetti, Ren
dc.contributor.authorDomchek, SMen
dc.contributor.authorDorfling, CMen
dc.contributor.authorDos-Santos-Silva, Ien
dc.contributor.authorDumont, Men
dc.contributor.authorDunning, Alisonen
dc.contributor.authorEccles, DMen
dc.contributor.authorEhrencrona, Hen
dc.contributor.authorEkici, ABen
dc.contributor.authorEliassen, Hen
dc.contributor.authorEllis, Steveen
dc.contributor.authorFasching, PAen
dc.contributor.authorFigueroa, Jen
dc.contributor.authorFlesch-Janys, Den
dc.contributor.authorFörsti, Aen
dc.contributor.authorFostira, Fen
dc.contributor.authorFoulkes, WDen
dc.contributor.authorFriebel, Ten
dc.contributor.authorFriedman, Een
dc.contributor.authorFrost, Den
dc.contributor.authorGabrielson, Men
dc.contributor.authorGammon, MDen
dc.contributor.authorGanz, PAen
dc.contributor.authorGapstur, SMen
dc.contributor.authorGarber, Jen
dc.contributor.authorGaudet, MMen
dc.contributor.authorGayther, SAen
dc.contributor.authorGerdes, A-Men
dc.contributor.authorGhoussaini, Mayaen
dc.contributor.authorGiles, GGen
dc.contributor.authorGlendon, Gen
dc.contributor.authorGodwin, AKen
dc.contributor.authorGoldberg, MSen
dc.contributor.authorGoldgar, DEen
dc.contributor.authorGonzález-Neira, Aen
dc.contributor.authorGreene, MHen
dc.contributor.authorGronwald, Jen
dc.contributor.authorGuénel, Pen
dc.contributor.authorGunter, Men
dc.contributor.authorHaeberle, Len
dc.contributor.authorHaiman, CAen
dc.contributor.authorHamann, Uen
dc.contributor.authorHansen, TVOen
dc.contributor.authorHart, Sen
dc.contributor.authorHealey, Sen
dc.contributor.authorHeikkinen, Ten
dc.contributor.authorHenderson, BEen
dc.contributor.authorHerzog, Jen
dc.contributor.authorHogervorst, FBLen
dc.contributor.authorHollestelle, Aen
dc.contributor.authorHooning, MJen
dc.contributor.authorHoover, RNen
dc.contributor.authorHopper, JLen
dc.contributor.authorHumphreys, Ken
dc.contributor.authorHunter, DJen
dc.contributor.authorHuzarski, Ten
dc.contributor.authorImyanitov, ENen
dc.contributor.authorIsaacs, Cen
dc.contributor.authorJakubowska, Aen
dc.contributor.authorJames, Pen
dc.contributor.authorJanavicius, Ren
dc.contributor.authorJensen, UBen
dc.contributor.authorJohn, EMen
dc.contributor.authorJones, Men
dc.contributor.authorKabisch, Men
dc.contributor.authorKar, Sen
dc.contributor.authorKarlan, BYen
dc.contributor.authorKhan, Sen
dc.contributor.authorKhaw, Kay-Teeen
dc.contributor.authorKibriya, MGen
dc.contributor.authorKnight, JAen
dc.contributor.authorKo, Y-Den
dc.contributor.authorKonstantopoulou, Ien
dc.contributor.authorKosma, V-Men
dc.contributor.authorKristensen, Ven
dc.contributor.authorKwong, Aen
dc.contributor.authorLaitman, Yen
dc.contributor.authorLambrechts, Den
dc.contributor.authorLazaro, Cen
dc.contributor.authorLee, Een
dc.contributor.authorLe Marchand, Len
dc.contributor.authorLester, Jen
dc.contributor.authorLindblom, Aen
dc.contributor.authorLindor, Nen
dc.contributor.authorLindstrom, Sen
dc.contributor.authorLiu, Jen
dc.contributor.authorLong, Jen
dc.contributor.authorLubinski, Jen
dc.contributor.authorMai, PLen
dc.contributor.authorMakalic, Een
dc.contributor.authorMalone, KEen
dc.contributor.authorMannermaa, Aen
dc.contributor.authorManoukian, Sen
dc.contributor.authorMargolin, Sen
dc.contributor.authorMarme, Fen
dc.contributor.authorMartens, JWMen
dc.contributor.authorMcGuffog, Len
dc.contributor.authorMeindl, Aen
dc.contributor.authorMiller, Aen
dc.contributor.authorMilne, RLen
dc.contributor.authorMiron, Pen
dc.contributor.authorMontagna, Men
dc.contributor.authorMazoyer, Sen
dc.contributor.authorMulligan, AMen
dc.contributor.authorMuranen, TAen
dc.contributor.authorNathanson, KLen
dc.contributor.authorNeuhausen, SLen
dc.contributor.authorNevanlinna, Hen
dc.contributor.authorNordestgaard, BGen
dc.contributor.authorNussbaum, RLen
dc.contributor.authorOffit, Ken
dc.contributor.authorOlah, Een
dc.contributor.authorOlopade, OIen
dc.contributor.authorOlson, JEen
dc.contributor.authorOsorio, Aen
dc.contributor.authorPark, SKen
dc.contributor.authorPeeters, PHen
dc.contributor.authorPeissel, Ben
dc.contributor.authorPeterlongo, Pen
dc.contributor.authorPeto, Jen
dc.contributor.authorPhelan, CMen
dc.contributor.authorPilarski, Ren
dc.contributor.authorPoppe, Ben
dc.contributor.authorPylkäs, Ken
dc.contributor.authorRadice, Pen
dc.contributor.authorRahman, Nen
dc.contributor.authorRantala, Jen
dc.contributor.authorRappaport, Cen
dc.contributor.authorRennert, Gen
dc.contributor.authorRichardson, Aen
dc.contributor.authorRobson, Men
dc.contributor.authorRomieu, Ien
dc.contributor.authorRudolph, Aen
dc.contributor.authorRutgers, EJen
dc.contributor.authorSanchez, M-Jen
dc.contributor.authorSantella, RMen
dc.contributor.authorSawyer, EJen
dc.contributor.authorSchmidt, DFen
dc.contributor.authorSchmidt, MKen
dc.contributor.authorSchmutzler, RKen
dc.contributor.authorSchumacher, Fen
dc.contributor.authorScott, Ren
dc.contributor.authorSenter, Len
dc.contributor.authorSharma, Pen
dc.contributor.authorSimard, Jen
dc.contributor.authorSinger, CFen
dc.contributor.authorSinilnikova, OMen
dc.contributor.authorSoucy, Pen
dc.contributor.authorSouthey, Men
dc.contributor.authorSteinemann, Den
dc.contributor.authorStenmark-Askmalm, Men
dc.contributor.authorStoppa-Lyonnet, Den
dc.contributor.authorSwerdlow, Aen
dc.contributor.authorSzabo, CIen
dc.contributor.authorTamimi, Ren
dc.contributor.authorTapper, Wen
dc.contributor.authorTeixeira, MRen
dc.contributor.authorTeo, S-Hen
dc.contributor.authorTerry, MBen
dc.contributor.authorThomassen, Men
dc.contributor.authorNunn, Deborahen
dc.contributor.authorTihomirova, Len
dc.contributor.authorToland, AEen
dc.contributor.authorTollenaar, RAEMen
dc.contributor.authorTomlinson, Ien
dc.contributor.authorTruong, Ten
dc.contributor.authorTsimiklis, Hen
dc.contributor.authorTeulé, Aen
dc.contributor.authorTumino, Ren
dc.contributor.authorTung, Nen
dc.contributor.authorTurnbull, Cen
dc.contributor.authorUrsin, Gen
dc.contributor.authorvan Deurzen, CHMen
dc.contributor.authorvan Rensburg, EJen
dc.contributor.authorVaron-Mateeva, Ren
dc.contributor.authorWang, Zen
dc.contributor.authorWang-Gohrke, Sen
dc.contributor.authorWeiderpass, Een
dc.contributor.authorWeitzel, JNen
dc.contributor.authorWhittemore, Aen
dc.contributor.authorWildiers, Hen
dc.contributor.authorWinqvist, Ren
dc.contributor.authorYang, XRen
dc.contributor.authorYannoukakos, Den
dc.contributor.authorYao, Sen
dc.contributor.authorZamora, MPen
dc.contributor.authorZheng, Wen
dc.contributor.authorHall, Pen
dc.contributor.authorKraft, Pen
dc.contributor.authorVachon, Cen
dc.contributor.authorSlager, Sen
dc.contributor.authorChenevix-Trench, Gen
dc.contributor.authorPharoah, Paulen
dc.contributor.authorMonteiro, AANen
dc.contributor.authorGarcía-Closas, Men
dc.contributor.authorEaston, Douglasen
dc.contributor.authorAntoniou, Antonisen
dc.date.accessioned2016-04-15T13:59:35Z
dc.date.available2016-04-15T13:59:35Z
dc.date.issued2016-04-27en
dc.identifier.citationCouch et al. Nature Communications (2016)en
dc.identifier.issn2041-1723
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/255004
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.
dc.description.sponsorshipB.C.A.C. was funded through a European Community Seventh Framework Programme under grant agreement no 223175 (HEALTH-F2-2009-223175; COGS); Cancer Research UK (C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/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 Research Fund. 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.
dc.languageengen
dc.language.isoenen
dc.publisherSpringer Nature
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.titleIdentification of four novel susceptibility loci for oestrogen receptor negative breast cancer.en
dc.typeArticle
prism.number11375en
prism.publicationDate2016en
prism.publicationNameNature Communicationsen
prism.volume7en
dc.rioxxterms.funderCRUK
dc.rioxxterms.funderNIH
dc.rioxxterms.funderNIHR
dc.rioxxterms.funderWellcome Trust
dcterms.dateAccepted2016-03-21en
rioxxterms.versionofrecord10.1038/ncomms11375en
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/en
rioxxterms.licenseref.startdate2016-04-27en
dc.contributor.orcidDunning, Alison [0000-0001-6651-7166]
dc.contributor.orcidGhoussaini, Maya [0000-0002-2415-2143]
dc.contributor.orcidKhaw, Kay-Tee [0000-0002-8802-2903]
dc.contributor.orcidNunn, Deborah [0000-0003-1465-5799]
dc.contributor.orcidPharoah, Paul [0000-0001-8494-732X]
dc.contributor.orcidEaston, Douglas [0000-0003-2444-3247]
dc.contributor.orcidAntoniou, Antonis [0000-0001-9223-3116]
dc.identifier.eissn2041-1723
rioxxterms.typeJournal Article/Reviewen
pubs.funder-project-idCancer Research UK (10124)
pubs.funder-project-idCancer Research UK (10119)
pubs.funder-project-idCancer Research UK (16561)
pubs.funder-project-idCancer Research UK (A11020)
pubs.funder-project-idCancer Research UK (11021)
pubs.funder-project-idNational Cancer Institute (NCI) (R01CA128978)
pubs.funder-project-idNational Cancer Institute (NCI) (U19CA148537)
pubs.funder-project-idNational Cancer Institute (NCI) (U19CA148065)
pubs.funder-project-idMEDICAL RESEARCH COUNCIL (MR/N003284/1)
pubs.funder-project-idMRC (G0401527)
pubs.funder-project-idEC FP7 CP (223175)
pubs.funder-project-idCancer Research UK (CRUK-A10710)
pubs.funder-project-idCancer Research UK (CRUK-A12014)
pubs.funder-project-idCancer Research UK (CRUK-A10118)
cam.issuedOnline2016-04-27en


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International