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dc.contributor.authorLitchfield, K
dc.contributor.authorSummersgill, B
dc.contributor.authorYost, S
dc.contributor.authorSultana, R
dc.contributor.authorLabreche, K
dc.contributor.authorDudakia, D
dc.contributor.authorRenwick, A
dc.contributor.authorSeal, S
dc.contributor.authorAl-Saadi, R
dc.contributor.authorBroderick, P
dc.contributor.authorTurner, NC
dc.contributor.authorHoulston, RS
dc.contributor.authorHuddart, R
dc.contributor.authorShipley, J
dc.contributor.authorTurnbull, C
dc.date.accessioned2020-08-06T14:49:53Z
dc.date.issued2015-01-22
dc.identifier.citationNature communications, 2015, 6 pp. 5973 - ?
dc.identifier.issn2041-1723
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3913
dc.identifier.eissn2041-1723
dc.identifier.doi10.1038/ncomms6973
dc.description.abstractTesticular germ cell tumours (TGCTs) are the most common cancer in young men. Here we perform whole-exome sequencing (WES) of 42 TGCTs to comprehensively study the cancer's mutational profile. The mutation rate is uniformly low in all of the tumours (mean 0.5 mutations per Mb) as compared with common cancers, consistent with the embryological origin of TGCT. In addition to expected copy number gain of chromosome 12p and mutation of KIT, we identify recurrent mutations in the tumour suppressor gene CDC27 (11.9%). Copy number analysis reveals recurring amplification of the spermatocyte development gene FSIP2 (15.3%) and a 0.4 Mb region at Xq28 (15.3%). Two treatment-refractory patients are shown to harbour XRCC2 mutations, a gene strongly implicated in defining cisplatin resistance. Our findings provide further insights into genes involved in the development and progression of TGCT.
dc.formatElectronic
dc.format.extent5973 - ?
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectSpermatocytes
dc.subjectChromosomes, Human, Pair 12
dc.subjectHumans
dc.subjectNeoplasms, Germ Cell and Embryonal
dc.subjectSeminoma
dc.subjectTesticular Neoplasms
dc.subjectChromosome Aberrations
dc.subjectDisease Progression
dc.subjectCisplatin
dc.subjectDNA-Binding Proteins
dc.subjectInterleukins
dc.subjectCohort Studies
dc.subjectDNA Mutational Analysis
dc.subjectGene Dosage
dc.subjectMutation
dc.subjectPolymorphism, Single Nucleotide
dc.subjectGenes, Tumor Suppressor
dc.subjectAdult
dc.subjectMiddle Aged
dc.subjectMale
dc.subjectProto-Oncogene Proteins c-kit
dc.subjectExome
dc.titleWhole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours.
dc.typeJournal Article
dcterms.dateAccepted2014-11-25
rioxxterms.versionofrecord10.1038/ncomms6973
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2015-01-22
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfNature communications
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/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Molecular Oncology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Cancer Therapeutics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Cancer Therapeutics/Sarcoma Molecular Pathology
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/Primary Group/ICR Divisions/Molecular Pathology/Sarcoma Molecular Pathology
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
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Molecular Oncology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Cancer Therapeutics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Cancer Therapeutics/Sarcoma Molecular Pathology
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/Primary Group/ICR Divisions/Molecular Pathology/Sarcoma Molecular Pathology
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.publication-statusPublished
pubs.volume6
pubs.embargo.termsNot known
icr.researchteamMolecular Oncologyen_US
icr.researchteamCancer Genomicsen_US
icr.researchteamMolecular & Population Geneticsen_US
icr.researchteamSarcoma Molecular Pathologyen_US
icr.researchteamClinical Academic Radiotherapy (Huddart)en_US
dc.contributor.icrauthorShipley, Janeten
dc.contributor.icrauthorHoulston, Richarden
dc.contributor.icrauthorHuddart, Roberten
dc.contributor.icrauthorBroderick, Peteren
dc.contributor.icrauthorTurner, Nicholasen
dc.contributor.icrauthorTurnbull, Clareen
dc.contributor.icrauthorLitchfield, Kevinen


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