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Identification of nine new susceptibility loci for endometrial cancer

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cam.issuedOnline2018-08-09
dc.contributor.authorEaston, DF
dc.contributor.authorThompson, Deborah J
dc.contributor.orcidEaston, Douglas [0000-0003-2444-3247]
dc.contributor.orcidThompson, Deborah [0000-0003-1465-5799]
dc.date.accessioned2018-12-18T10:00:00Z
dc.date.available2018-12-18T10:00:00Z
dc.date.issued2018-08-09
dc.description.abstractEndometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS) we have previously identified eight risk loci for endometrial cancer. Here, we present an expanded meta-analysis of 12,906 endometrial cancer cases and 108,979 controls (including new genotype data for 5,624 cases) and identify nine novel genome-wide significant loci, including a locus on 12q24.12 previously identified by meta-GWAS of endometrial and colorectal cancer. At five loci, expression quantitative trait locus (eQTL) analyses identify candidate causal genes and risk alleles at two of these loci that associate with decreased expression of genes which encode negative regulators of oncogenic signal transduction proteins (SH2B3 (12q24.12) and NF1 (17q11.2)). In summary, this study has doubled the number of known endometrial cancer risk loci and revealed candidate causal genes for future study.
dc.identifier.doi10.17863/CAM.34441
dc.identifier.eissn2041-1723
dc.identifier.issn2041-1723
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/287134
dc.language.isoeng
dc.publisherSpringer Nature
dc.publisher.urlhttps://www.nature.com/articles/s41467-018-05427-7#article-info
dc.rightsAttribution 4.0 International
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectAlleles
dc.subjectBiomarkers, Tumor
dc.subjectChromatin
dc.subjectEndometrial Neoplasms
dc.subjectFemale
dc.subjectGene Frequency
dc.subjectGenetic Predisposition to Disease
dc.subjectGenome-Wide Association Study
dc.subjectGenotype
dc.subjectHumans
dc.subjectPolymorphism, Single Nucleotide
dc.subjectQuantitative Trait Loci
dc.subjectRisk Factors
dc.subjectSignal Transduction
dc.titleIdentification of nine new susceptibility loci for endometrial cancer
dc.typeArticle
dcterms.dateAccepted2018-07-02
prism.number3166
prism.publicationNameNature Communications
prism.volume9
pubs.funder-project-idCancer Research UK (16565)
pubs.funder-project-idMedical Research Council (MC_UU_12015/2)
pubs.funder-project-idNational Cancer Institute (U19CA148537)
pubs.funder-project-idNational Cancer Institute (R01CA128978)
pubs.funder-project-idNational Cancer Institute (U19CA148065)
pubs.funder-project-idEuropean Commission (223175)
pubs.funder-project-idNational Health and Medical Research Council (1109286)
pubs.funder-project-idCancer Research UK (10710)
pubs.funder-project-idCancer Research UK (12014)
pubs.funder-project-idCancer Research UK (10118)
pubs.funder-project-idNational Health and Medical Research Council (1109286)
pubs.funder-project-idNational Health and Medical Research Council (1031333)
pubs.funder-project-idCancer Research UK (16563)
rioxxterms.licenseref.startdate2018-07-02
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
rioxxterms.typeJournal Article/Review
rioxxterms.versionVoR
rioxxterms.versionofrecord10.1038/s41467-018-05427-7

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