The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy
Open accessAbstract
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.
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Cited by
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Metadata
- Authors
- Balbás-Martínez, C., Sagrera, A., Carrillo-de-Santa-Pau, E., Earl, J., Márquez, M., Vazquez, M., Lapi, E., Castro-Giner, F., Beltran, S., Bayés, M., Carrato, A., Cigudosa, J. C., Domínguez, O., Gut, M., Herranz, J., Juanpere, N., Kogevinas, M., Langa, X., López-Knowles, E., Lorente, J. A., Lloreta, J., Pisano, D. G., Richart, L., Rico, D., Salgado, R. N., Tardón, A., Chanock, S., Heath, S., Valencia, A., Losada, A., Gut, I., Malats, N., & Real, F. X.
- Venue
- Nature Genetics
- Published
- 2013-10-13
- Volume
- 45
- Issue
- 12
- Pages
- 1464-1469
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1975004069
- Cited by
- 273
- References
- 32
- FWCI
- 26.94
- Type
- journal article
- Language
- en
- Open access
- green
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- Balbás-Martínez, C., Sagrera, A., Carrillo-de-Santa-Pau, E., Earl, J., Márquez, M., Vazquez, M., Lapi, E., Castro-Giner, F., Beltran, S., Bayés, M., Carrato, A., Cigudosa, J. C., Domínguez, O., Gut, M., Herranz, J., Juanpere, N., Kogevinas, M., Langa, X., López-Knowles, E., . . . Real, F. X. (2013). Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy. Nature Genetics. https://doi.org/10.1038/ng.2799
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
