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dc.contributor.authorJi, Xen_US
dc.contributor.authorMukherjee, Sen_US
dc.contributor.authorLandi, MTen_US
dc.contributor.authorBosse, Yen_US
dc.contributor.authorJoubert, Pen_US
dc.contributor.authorZhu, Den_US
dc.contributor.authorGorlov, Ien_US
dc.contributor.authorXiao, Xen_US
dc.contributor.authorHan, Yen_US
dc.contributor.authorGorlova, Oen_US
dc.contributor.authorHung, RJen_US
dc.contributor.authorBrhane, Yen_US
dc.contributor.authorCarreras-Torres, Ren_US
dc.contributor.authorChristiani, DCen_US
dc.contributor.authorCaporaso, Nen_US
dc.contributor.authorJohansson, Men_US
dc.contributor.authorLiu, Gen_US
dc.contributor.authorBojesen, SEen_US
dc.contributor.authorLe Marchand, Len_US
dc.contributor.authorAlbanes, Den_US
dc.contributor.authorBickeböller, Hen_US
dc.contributor.authorAldrich, MCen_US
dc.contributor.authorBush, WSen_US
dc.contributor.authorTardon, Aen_US
dc.contributor.authorRennert, Gen_US
dc.contributor.authorChen, Cen_US
dc.contributor.authorByun, Jen_US
dc.contributor.authorDragnev, KHen_US
dc.contributor.authorField, JKen_US
dc.contributor.authorKiemeney, LFen_US
dc.contributor.authorLazarus, Pen_US
dc.contributor.authorZienolddiny, Sen_US
dc.contributor.authorLam, Sen_US
dc.contributor.authorSchabath, MBen_US
dc.contributor.authorAndrew, ASen_US
dc.contributor.authorBertazzi, PAen_US
dc.contributor.authorPesatori, ACen_US
dc.contributor.authorDiao, Nen_US
dc.contributor.authorSu, Len_US
dc.contributor.authorSong, Len_US
dc.contributor.authorZhang, Ren_US
dc.contributor.authorLeighl, Nen_US
dc.contributor.authorJohansen, JSen_US
dc.contributor.authorMellemgaard, Aen_US
dc.contributor.authorSaliba, Wen_US
dc.contributor.authorHaiman, Cen_US
dc.contributor.authorWilkens, Len_US
dc.contributor.authorFernandez-Somoano, Aen_US
dc.contributor.authorFernandez-Tardon, Gen_US
dc.contributor.authorHeijden, EHFMVDen_US
dc.contributor.authorKim, JHen_US
dc.contributor.authorDavies, MPAen_US
dc.contributor.authorMarcus, MWen_US
dc.contributor.authorBrunnström, Hen_US
dc.contributor.authorManjer, Jen_US
dc.contributor.authorMelander, Oen_US
dc.contributor.authorMuller, DCen_US
dc.contributor.authorOvervad, Ken_US
dc.contributor.authorTrichopoulou, Aen_US
dc.contributor.authorTumino, Ren_US
dc.contributor.authorGoodman, GEen_US
dc.contributor.authorCox, Aen_US
dc.contributor.authorTaylor, Fen_US
dc.contributor.authorWoll, Pen_US
dc.contributor.authorWichmann, Een_US
dc.contributor.authorMuley, Ten_US
dc.contributor.authorRisch, Aen_US
dc.contributor.authorRosenberger, Aen_US
dc.contributor.authorGrankvist, Ken_US
dc.contributor.authorJohansson, Men_US
dc.contributor.authorShepherd, Fen_US
dc.contributor.authorTsao, M-Sen_US
dc.contributor.authorArnold, SMen_US
dc.contributor.authorHaura, EBen_US
dc.contributor.authorBolca, Cen_US
dc.contributor.authorHolcatova, Ien_US
dc.contributor.authorJanout, Ven_US
dc.contributor.authorKontic, Men_US
dc.contributor.authorLissowska, Jen_US
dc.contributor.authorMukeria, Aen_US
dc.contributor.authorOgnjanovic, Sen_US
dc.contributor.authorOrlowski, TMen_US
dc.contributor.authorScelo, Gen_US
dc.contributor.authorSwiatkowska, Ben_US
dc.contributor.authorZaridze, Den_US
dc.contributor.authorBakke, Pen_US
dc.contributor.authorSkaug, Ven_US
dc.contributor.authorButler, LMen_US
dc.contributor.authorOffit, Ken_US
dc.contributor.authorSrinivasan, Pen_US
dc.contributor.authorBandlamudi, Cen_US
dc.contributor.authorHellmann, MDen_US
dc.contributor.authorSolit, DBen_US
dc.contributor.authorRobson, MEen_US
dc.contributor.authorRudin, CMen_US
dc.contributor.authorStadler, ZKen_US
dc.contributor.authorTaylor, BSen_US
dc.contributor.authorBerger, MFen_US
dc.contributor.authorHoulston, Ren_US
dc.contributor.authorMcLaughlin, Jen_US
dc.contributor.authorStevens, Ven_US
dc.contributor.authorNickle, DCen_US
dc.contributor.authorObeidat, Men_US
dc.contributor.authorTimens, Wen_US
dc.contributor.authorArtigas, MSen_US
dc.contributor.authorShete, Sen_US
dc.contributor.authorBrenner, Hen_US
dc.contributor.authorChanock, Sen_US
dc.contributor.authorBrennan, Pen_US
dc.contributor.authorMcKay, JDen_US
dc.contributor.authorAmos, CIen_US
dc.date.accessioned2020-05-18T13:48:26Z
dc.date.issued2020-05-11en_US
dc.identifier.citationNature communications, 2020, 11 (1), pp. 2220 - ?en_US
dc.identifier.issn2041-1723en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3610
dc.identifier.eissn2041-1723en_US
dc.identifier.doi10.1038/s41467-020-15905-6en_US
dc.description.abstractFew germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect association with an ATM L2307F (rs56009889) mutation in adenocarcinoma for discovery (adjusted Odds Ratio = 8.82, P = 1.18 × 10-15) and replication (adjusted OR = 2.93, P = 2.22 × 10-3) that is more pronounced in females (adjusted OR = 6.81 and 3.19 and for discovery and replication). We observe an excess loss of heterozygosity in lung tumors among ATM L2307F allele carriers. L2307F is more frequent (4%) among Ashkenazi Jewish populations. We also observe an association in discovery (adjusted OR = 2.61, P = 7.98 × 10-22) and replication datasets (adjusted OR = 1.55, P = 0.06) with a loss-of-function mutation, Q4X (rs150665432) of an uncharacterized gene, KIAA0930. Our findings implicate germline genetic variants in ATM with lung cancer susceptibility and suggest KIAA0930 as a novel candidate gene for lung cancer risk.en_US
dc.formatElectronicen_US
dc.format.extent2220 - ?en_US
dc.languageengen_US
dc.language.isoengen_US
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en_US
dc.titleProtein-altering germline mutations implicate novel genes related to lung cancer development.en_US
dc.typeJournal Article
dcterms.dateAccepted2020-03-25en_US
rioxxterms.versionofrecord10.1038/s41467-020-15905-6en_US
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0en_US
rioxxterms.licenseref.startdate2020-05-11en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfNature communicationsen_US
pubs.issue1en_US
pubs.notesNot knownen_US
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/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Molecular & Population Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular & Population Genetics
pubs.publication-statusPublisheden_US
pubs.volume11en_US
pubs.embargo.termsNot knownen_US
icr.researchteamMolecular & Population Geneticsen_US
dc.contributor.icrauthorHoulston, Richarden_US


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