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dc.contributor.authorWang, Yen_US
dc.contributor.authorMcKay, JDen_US
dc.contributor.authorRafnar, Ten_US
dc.contributor.authorWang, Zen_US
dc.contributor.authorTimofeeva, MNen_US
dc.contributor.authorBroderick, Pen_US
dc.contributor.authorZong, Xen_US
dc.contributor.authorLaplana, Men_US
dc.contributor.authorWei, Yen_US
dc.contributor.authorHan, Yen_US
dc.contributor.authorLloyd, Aen_US
dc.contributor.authorDelahaye-Sourdeix, Men_US
dc.contributor.authorChubb, Den_US
dc.contributor.authorGaborieau, Ven_US
dc.contributor.authorWheeler, Wen_US
dc.contributor.authorChatterjee, Nen_US
dc.contributor.authorThorleifsson, Gen_US
dc.contributor.authorSulem, Pen_US
dc.contributor.authorLiu, Gen_US
dc.contributor.authorKaaks, Ren_US
dc.contributor.authorHenrion, Men_US
dc.contributor.authorKinnersley, Ben_US
dc.contributor.authorVallée, Men_US
dc.contributor.authorLeCalvez-Kelm, Fen_US
dc.contributor.authorStevens, VLen_US
dc.contributor.authorGapstur, SMen_US
dc.contributor.authorChen, WVen_US
dc.contributor.authorZaridze, Den_US
dc.contributor.authorSzeszenia-Dabrowska, Nen_US
dc.contributor.authorLissowska, Jen_US
dc.contributor.authorRudnai, Pen_US
dc.contributor.authorFabianova, Een_US
dc.contributor.authorMates, Den_US
dc.contributor.authorBencko, Ven_US
dc.contributor.authorForetova, Len_US
dc.contributor.authorJanout, Ven_US
dc.contributor.authorKrokan, HEen_US
dc.contributor.authorGabrielsen, MEen_US
dc.contributor.authorSkorpen, Fen_US
dc.contributor.authorVatten, Len_US
dc.contributor.authorNjølstad, Ien_US
dc.contributor.authorChen, Cen_US
dc.contributor.authorGoodman, Gen_US
dc.contributor.authorBenhamou, Sen_US
dc.contributor.authorVooder, Ten_US
dc.contributor.authorVälk, Ken_US
dc.contributor.authorNelis, Men_US
dc.contributor.authorMetspalu, Aen_US
dc.contributor.authorLener, Men_US
dc.contributor.authorLubiński, Jen_US
dc.contributor.authorJohansson, Men_US
dc.contributor.authorVineis, Pen_US
dc.contributor.authorAgudo, Aen_US
dc.contributor.authorClavel-Chapelon, Fen_US
dc.contributor.authorBueno-de-Mesquita, HBen_US
dc.contributor.authorTrichopoulos, Den_US
dc.contributor.authorKhaw, KTen_US
dc.contributor.authorJohansson, Men_US
dc.contributor.authorWeiderpass, Een_US
dc.contributor.authorTjønneland, Aen_US
dc.contributor.authorRiboli, Een_US
dc.contributor.authorLathrop, Men_US
dc.contributor.authorScelo, Gen_US
dc.contributor.authorAlbanes, Den_US
dc.contributor.authorCaporaso, NEen_US
dc.contributor.authorYe, Yen_US
dc.contributor.authorGu, Jen_US
dc.contributor.authorWu, Xen_US
dc.contributor.authorSpitz, MRen_US
dc.contributor.authorDienemann, Hen_US
dc.contributor.authorRosenberger, Aen_US
dc.contributor.authorSu, Len_US
dc.contributor.authorMatakidou, Aen_US
dc.contributor.authorEisen, Ten_US
dc.contributor.authorStefansson, Ken_US
dc.contributor.authorRisch, Aen_US
dc.contributor.authorChanock, SJen_US
dc.contributor.authorChristiani, DCen_US
dc.contributor.authorHung, RJen_US
dc.contributor.authorBrennan, Pen_US
dc.contributor.authorLandi, MTen_US
dc.contributor.authorHoulston, RSen_US
dc.contributor.authorAmos, CIen_US
dc.date.accessioned2018-06-13T09:37:08Z
dc.date.issued2014-07en_US
dc.identifier.citationNature genetics, 2014, 46 (7), pp. 736 - 741en_US
dc.identifier.issn1061-4036en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/1849
dc.identifier.eissn1546-1718en_US
dc.identifier.doi10.1038/ng.3002en_US
dc.description.abstractWe conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and 38,295 controls for follow-up. We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)). We also showed an association between common variation at 3q28 (TP63, rs13314271, OR = 1.13, P = 7.22 × 10(-10)) and lung adenocarcinoma that had been previously reported only in Asians. These findings provide further evidence for inherited genetic susceptibility to lung cancer and its biological basis. Additionally, our analysis demonstrates that imputation can identify rare disease-causing variants with substantive effects on cancer risk from preexisting genome-wide association study data.en_US
dc.formatPrint-Electronicen_US
dc.format.extent736 - 741en_US
dc.languageengen_US
dc.language.isoengen_US
dc.rights.urihttp://www.rioxx.net/licenses/all-rights-reserveden_US
dc.subjectHumansen_US
dc.subjectAdenocarcinomaen_US
dc.subjectCarcinoma, Squamous Cellen_US
dc.subjectLung Neoplasmsen_US
dc.subjectGenetic Predisposition to Diseaseen_US
dc.subjectBRCA2 Proteinen_US
dc.subjectPrognosisen_US
dc.subjectRisk Factorsen_US
dc.subjectCase-Control Studiesen_US
dc.subjectPolymorphism, Single Nucleotideen_US
dc.subjectMeta-Analysis as Topicen_US
dc.subjectGenome-Wide Association Studyen_US
dc.subjectCheckpoint Kinase 2en_US
dc.titleRare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.en_US
dc.typeJournal Article
dcterms.dateAccepted2014-05-08en_US
rioxxterms.versionofrecord10.1038/ng.3002en_US
rioxxterms.licenseref.startdate2014-07en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfNature geneticsen_US
pubs.issue7en_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.volume46en_US
pubs.embargo.termsNot knownen_US
icr.researchteamMolecular & Population Geneticsen_US
dc.contributor.icrauthorHoulston, Richarden_US
dc.contributor.icrauthorBroderick, Peteren_US
dc.contributor.icrauthorWang, Yufeien_US
dc.contributor.icrauthorChubb, Danielen_US
dc.contributor.icrauthorKinnersley, Benjaminen_US


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