dc.contributor.author | Balbás-Martínez, C | |
dc.contributor.author | Sagrera, A | |
dc.contributor.author | Carrillo-de-Santa-Pau, E | |
dc.contributor.author | Earl, J | |
dc.contributor.author | Márquez, M | |
dc.contributor.author | Vazquez, M | |
dc.contributor.author | Lapi, E | |
dc.contributor.author | Castro-Giner, F | |
dc.contributor.author | Beltran, S | |
dc.contributor.author | Bayés, M | |
dc.contributor.author | Carrato, A | |
dc.contributor.author | Cigudosa, JC | |
dc.contributor.author | Domínguez, O | |
dc.contributor.author | Gut, M | |
dc.contributor.author | Herranz, J | |
dc.contributor.author | Juanpere, N | |
dc.contributor.author | Kogevinas, M | |
dc.contributor.author | Langa, X | |
dc.contributor.author | López-Knowles, E | |
dc.contributor.author | Lorente, JA | |
dc.contributor.author | Lloreta, J | |
dc.contributor.author | Pisano, DG | |
dc.contributor.author | Richart, L | |
dc.contributor.author | Rico, D | |
dc.contributor.author | Salgado, RN | |
dc.contributor.author | Tardón, A | |
dc.contributor.author | Chanock, S | |
dc.contributor.author | Heath, S | |
dc.contributor.author | Valencia, A | |
dc.contributor.author | Losada, A | |
dc.contributor.author | Gut, I | |
dc.contributor.author | Malats, N | |
dc.contributor.author | Real, FX | |
dc.coverage.spatial | United States | |
dc.date.accessioned | 2022-08-16T13:25:25Z | |
dc.date.available | 2022-08-16T13:25:25Z | |
dc.date.issued | 2013-12-01 | |
dc.identifier | ng.2799 | |
dc.identifier.citation | Nature Genetics, 2013, 45 (12), pp. 1464 - 1469 | |
dc.identifier.issn | 1061-4036 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/5274 | |
dc.identifier.eissn | 1546-1718 | |
dc.identifier.eissn | 1546-1718 | |
dc.identifier.doi | 10.1038/ng.2799 | |
dc.description.abstract | Urothelial bladder cancer (UBC) is heterogeneous at the clinical, pathological and genetic levels. Tumor invasiveness (T) and grade (G) are the main factors associated with outcome and determine patient management. A discovery exome sequencing screen (n = 17), followed by a prevalence screen (n = 60), identified new genes mutated in this tumor coding for proteins involved in chromatin modification (MLL2, ASXL2 and BPTF), cell division (STAG2, SMC1A and SMC1B) and DNA repair (ATM, ERCC2 and FANCA). STAG2, a subunit of cohesin, was significantly and commonly mutated or lost in UBC, mainly in tumors of low stage or grade, and its loss was associated with improved outcome. Loss of expression was often observed in chromosomally stable tumors, and STAG2 knockdown in bladder cancer cells did not increase aneuploidy. STAG2 reintroduction in non-expressing cells led to reduced colony formation. Our findings indicate that STAG2 is a new UBC tumor suppressor acting through mechanisms that are different from its role in preventing aneuploidy. | |
dc.format | Print-Electronic | |
dc.format.extent | 1464 - 1469 | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | NATURE PUBLISHING GROUP | |
dc.relation.ispartof | Nature Genetics | |
dc.rights.uri | http://www.rioxx.net/licenses/all-rights-reserved | |
dc.subject | Adult | |
dc.subject | Aneuploidy | |
dc.subject | Antigens, Nuclear | |
dc.subject | Carcinoma | |
dc.subject | Cell Cycle Proteins | |
dc.subject | Cell Division | |
dc.subject | Cell Line, Tumor | |
dc.subject | Chromatin Assembly and Disassembly | |
dc.subject | DNA Repair | |
dc.subject | Gene Frequency | |
dc.subject | Gene Silencing | |
dc.subject | Genes, Tumor Suppressor | |
dc.subject | Humans | |
dc.subject | Mutation | |
dc.subject | Urinary Bladder Neoplasms | |
dc.title | Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2013-09-16 | |
dc.date.updated | 2022-08-16T13:07:26Z | |
rioxxterms.version | AM | |
rioxxterms.versionofrecord | 10.1038/ng.2799 | |
rioxxterms.licenseref.startdate | 2013-12-01 | |
rioxxterms.type | Journal Article/Review | |
pubs.author-url | https://www.ncbi.nlm.nih.gov/pubmed/24121791 | |
pubs.issue | 12 | |
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.publication-status | Published | |
pubs.volume | 45 | |
icr.provenance | Deposited by Dr Elena Lopez Knowles on 2022-08-16. Deposit type is initial. No. of files: 1. Files: Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.pdf | |