Show simple item record

dc.contributor.authorWang, Y
dc.contributor.authorMcKay, JD
dc.contributor.authorRafnar, T
dc.contributor.authorWang, Z
dc.contributor.authorTimofeeva, MN
dc.contributor.authorBroderick, P
dc.contributor.authorZong, X
dc.contributor.authorLaplana, M
dc.contributor.authorWei, Y
dc.contributor.authorHan, Y
dc.contributor.authorLloyd, A
dc.contributor.authorDelahaye-Sourdeix, M
dc.contributor.authorChubb, D
dc.contributor.authorGaborieau, V
dc.contributor.authorWheeler, W
dc.contributor.authorChatterjee, N
dc.contributor.authorThorleifsson, G
dc.contributor.authorSulem, P
dc.contributor.authorLiu, G
dc.contributor.authorKaaks, R
dc.contributor.authorHenrion, M
dc.contributor.authorKinnersley, B
dc.contributor.authorVallée, M
dc.contributor.authorLeCalvez-Kelm, F
dc.contributor.authorStevens, VL
dc.contributor.authorGapstur, SM
dc.contributor.authorChen, WV
dc.contributor.authorZaridze, D
dc.contributor.authorSzeszenia-Dabrowska, N
dc.contributor.authorLissowska, J
dc.contributor.authorRudnai, P
dc.contributor.authorFabianova, E
dc.contributor.authorMates, D
dc.contributor.authorBencko, V
dc.contributor.authorForetova, L
dc.contributor.authorJanout, V
dc.contributor.authorKrokan, HE
dc.contributor.authorGabrielsen, ME
dc.contributor.authorSkorpen, F
dc.contributor.authorVatten, L
dc.contributor.authorNjølstad, I
dc.contributor.authorChen, C
dc.contributor.authorGoodman, G
dc.contributor.authorBenhamou, S
dc.contributor.authorVooder, T
dc.contributor.authorVälk, K
dc.contributor.authorNelis, M
dc.contributor.authorMetspalu, A
dc.contributor.authorLener, M
dc.contributor.authorLubiński, J
dc.contributor.authorJohansson, M
dc.contributor.authorVineis, P
dc.contributor.authorAgudo, A
dc.contributor.authorClavel-Chapelon, F
dc.contributor.authorBueno-de-Mesquita, HB
dc.contributor.authorTrichopoulos, D
dc.contributor.authorKhaw, K-T
dc.contributor.authorJohansson, M
dc.contributor.authorWeiderpass, E
dc.contributor.authorTjønneland, A
dc.contributor.authorRiboli, E
dc.contributor.authorLathrop, M
dc.contributor.authorScelo, G
dc.contributor.authorAlbanes, D
dc.contributor.authorCaporaso, NE
dc.contributor.authorYe, Y
dc.contributor.authorGu, J
dc.contributor.authorWu, X
dc.contributor.authorSpitz, MR
dc.contributor.authorDienemann, H
dc.contributor.authorRosenberger, A
dc.contributor.authorSu, L
dc.contributor.authorMatakidou, A
dc.contributor.authorEisen, T
dc.contributor.authorStefansson, K
dc.contributor.authorRisch, A
dc.contributor.authorChanock, SJ
dc.contributor.authorChristiani, DC
dc.contributor.authorHung, RJ
dc.contributor.authorBrennan, P
dc.contributor.authorLandi, MT
dc.contributor.authorHoulston, RS
dc.contributor.authorAmos, CI
dc.date.accessioned2018-06-13T09:37:08Z
dc.date.issued2014-07
dc.identifier.citationNature genetics, 2014, 46 (7), pp. 736 - 741
dc.identifier.issn1061-4036
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/1849
dc.identifier.eissn1546-1718
dc.identifier.doi10.1038/ng.3002
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.
dc.formatPrint-Electronic
dc.format.extent736 - 741
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://www.rioxx.net/licenses/all-rights-reserved
dc.subjectHumans
dc.subjectAdenocarcinoma
dc.subjectCarcinoma, Squamous Cell
dc.subjectLung Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectBRCA2 Protein
dc.subjectPrognosis
dc.subjectRisk Factors
dc.subjectCase-Control Studies
dc.subjectPolymorphism, Single Nucleotide
dc.subjectMeta-Analysis as Topic
dc.subjectGenome-Wide Association Study
dc.subjectCheckpoint Kinase 2
dc.titleRare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
dc.typeJournal Article
dcterms.dateAccepted2014-05-08
rioxxterms.versionofrecord10.1038/ng.3002
rioxxterms.licenseref.urihttps://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2014-07
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfNature genetics
pubs.issue7
pubs.notesNot known
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/Cancer Genomics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular & Population Genetics
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/Cancer Genomics
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-statusPublished
pubs.volume46
pubs.embargo.termsNot known
icr.researchteamCancer Genomicsen_US
icr.researchteamMolecular & Population Geneticsen_US
dc.contributor.icrauthorChubb, Danielen
dc.contributor.icrauthorWang, Yufeien
dc.contributor.icrauthorHoulston, Richarden
dc.contributor.icrauthorBroderick, Peteren
dc.contributor.icrauthorKinnersley, Benjaminen


Files in this item

Thumbnail

This item appears in the following collection(s)

Show simple item record