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dc.contributor.authorLoveday, C
dc.contributor.authorSud, A
dc.contributor.authorLitchfield, K
dc.contributor.authorLevy, M
dc.contributor.authorHolroyd, A
dc.contributor.authorBroderick, P
dc.contributor.authorKote-Jarai, Z
dc.contributor.authorDunning, AM
dc.contributor.authorMuir, K
dc.contributor.authorPeto, J
dc.contributor.authorEeles, R
dc.contributor.authorEaston, DF
dc.contributor.authorDudakia, D
dc.contributor.authorOrr, N
dc.contributor.authorPashayan, N
dc.contributor.authorUK Testicular Cancer Collaboration
dc.contributor.authorPRACTICAL Consortium
dc.contributor.authorReid, A
dc.contributor.authorHuddart, RA
dc.contributor.authorHoulston, RS
dc.contributor.authorTurnbull, C
dc.date.accessioned2019-09-17T08:55:36Z
dc.date.issued2019-07
dc.identifier.citationAndrology, 2019, 7 (4), pp. 555 - 564
dc.identifier.issn2047-2919
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3339
dc.identifier.eissn2047-2927
dc.identifier.doi10.1111/andr.12667
dc.description.abstractBackground Testicular germ cell tumour (TGCT) is highly heritable but > 50% of the genetic risk remains unexplained. Epidemiological observation of greater relative risk to brothers of men with TGCT compared to sons has long alluded to recessively acting TGCT genetic susceptibility factors, but to date none have been reported. Runs of homozygosity (RoH) are a signature indicating underlying recessively acting alleles and have been associated with increased risk of other cancer types.Objective To examine whether RoH are associated with TGCT risk.Methods We performed a genome-wide RoH analysis using GWAS data from 3206 TGCT cases and 7422 controls uniformly genotyped using the OncoArray platform.Results Global measures of homozygosity were not significantly different between cases and controls, and the frequency of individual consensus RoH was not significantly different between cases and controls, after correction for multiple testing. RoH at three regions, 11p13-11p14.3, 5q14.1-5q22.3 and 13q14.11-13q.14.13, were, however, nominally statistically significant at p < 0.01. Intriguingly, RoH200 at 11p13-11p14.3 encompasses Wilms tumour 1 (WT1), a recognized cancer susceptibility gene with roles in sex determination and developmental transcriptional regulation, processes repeatedly implicated in TGCT aetiology.Discussion and conclusion Overall, our data do not support a major role in the risk of TGCT for recessively acting alleles acting through homozygosity, as measured by RoH in outbred populations of cases and controls.
dc.formatPrint
dc.format.extent555 - 564
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://www.rioxx.net/licenses/under-embargo-all-rights-reserved
dc.subjectUK Testicular Cancer Collaboration
dc.subjectPRACTICAL Consortium
dc.subjectHumans
dc.subjectNeoplasms, Germ Cell and Embryonal
dc.subjectTesticular Neoplasms
dc.subjectRisk Factors
dc.subjectGenotype
dc.subjectHomozygote
dc.subjectPolymorphism, Single Nucleotide
dc.subjectGenome
dc.subjectMale
dc.subjectGenome-Wide Association Study
dc.titleRuns of homozygosity and testicular cancer risk.
dc.typeJournal Article
dcterms.dateAccepted2019-05-17
rioxxterms.versionofrecord10.1111/andr.12667
rioxxterms.licenseref.urihttps://www.rioxx.net/licenses/under-embargo-all-rights-reserved
rioxxterms.licenseref.startdate2019-07
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfAndrology
pubs.issue4
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/Genetics and Epidemiology/Oncogenetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Clinical Academic Radiotherapy (Huddart)
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics
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/Genetics and Epidemiology/Oncogenetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Clinical Academic Radiotherapy (Huddart)
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics
pubs.publication-statusPublished
pubs.volume7
pubs.embargo.termsNot known
icr.researchteamCancer Genomicsen_US
icr.researchteamClinical Academic Radiotherapy (Huddart)en_US
icr.researchteamOncogeneticsen_US
dc.contributor.icrauthorLoveday, Cheyen
dc.contributor.icrauthorHuddart, Roberten
dc.contributor.icrauthorSud, Amiten
dc.contributor.icrauthorTurnbull, Clareen
dc.contributor.icrauthorHoulston, Richarden
dc.contributor.icrauthorEeles, Rosalinden
dc.contributor.icrauthorKote-Jarai, Zsofiaen
dc.contributor.icrauthorBroderick, Peteren
dc.contributor.icrauthorRustin, Gordonen


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