dc.contributor.author | Litchfield, K | |
dc.contributor.author | Summersgill, B | |
dc.contributor.author | Yost, S | |
dc.contributor.author | Sultana, R | |
dc.contributor.author | Labreche, K | |
dc.contributor.author | Dudakia, D | |
dc.contributor.author | Renwick, A | |
dc.contributor.author | Seal, S | |
dc.contributor.author | Al-Saadi, R | |
dc.contributor.author | Broderick, P | |
dc.contributor.author | Turner, NC | |
dc.contributor.author | Houlston, RS | |
dc.contributor.author | Huddart, R | |
dc.contributor.author | Shipley, J | |
dc.contributor.author | Turnbull, C | |
dc.date.accessioned | 2020-08-06T14:49:53Z | |
dc.date.issued | 2015-01-22 | |
dc.identifier.citation | Nature communications, 2015, 6 pp. 5973 - ? | |
dc.identifier.issn | 2041-1723 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/3913 | |
dc.identifier.eissn | 2041-1723 | |
dc.identifier.doi | 10.1038/ncomms6973 | |
dc.description.abstract | Testicular 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.format | Electronic | |
dc.format.extent | 5973 - ? | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | NATURE PUBLISHING GROUP | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | |
dc.subject | Spermatocytes | |
dc.subject | Chromosomes, Human, Pair 12 | |
dc.subject | Humans | |
dc.subject | Neoplasms, Germ Cell and Embryonal | |
dc.subject | Seminoma | |
dc.subject | Testicular Neoplasms | |
dc.subject | Chromosome Aberrations | |
dc.subject | Disease Progression | |
dc.subject | Cisplatin | |
dc.subject | DNA-Binding Proteins | |
dc.subject | Interleukins | |
dc.subject | Cohort Studies | |
dc.subject | DNA Mutational Analysis | |
dc.subject | Gene Dosage | |
dc.subject | Mutation | |
dc.subject | Polymorphism, Single Nucleotide | |
dc.subject | Genes, Tumor Suppressor | |
dc.subject | Adult | |
dc.subject | Middle Aged | |
dc.subject | Male | |
dc.subject | Proto-Oncogene Proteins c-kit | |
dc.subject | Exome | |
dc.title | Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2014-11-25 | |
rioxxterms.versionofrecord | 10.1038/ncomms6973 | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by/4.0 | |
rioxxterms.licenseref.startdate | 2015-01-22 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | Nature communications | |
pubs.notes | Not 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-status | Published | |
pubs.volume | 6 | |
pubs.embargo.terms | Not known | |
icr.researchteam | Molecular Oncology | |
icr.researchteam | Cancer Genomics | |
icr.researchteam | Molecular & Population Genetics | |
icr.researchteam | Sarcoma Molecular Pathology | |
icr.researchteam | Clinical Academic Radiotherapy (Huddart) | |
dc.contributor.icrauthor | Litchfield, Kevin | |
dc.contributor.icrauthor | Broderick, Peter | |
dc.contributor.icrauthor | Turner, Nicholas | |
dc.contributor.icrauthor | Houlston, Richard | |
dc.contributor.icrauthor | Huddart, Robert | |
dc.contributor.icrauthor | Shipley, Janet | |
dc.contributor.icrauthor | Turnbull, Clare | |