The DOI matches its Crossref record; 61 of the 61 references it cites were found in a registry or an index.
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes
Open accessAbstract
Endometrial cancer is the sixth most commonly diagnosed cancer in women worldwide, causing ∼74,000 deaths annually. Serous endometrial cancers are a clinically aggressive subtype with a poorly defined genetic etiology. We used whole-exome sequencing to comprehensively search for somatic mutations within ∼22,000 protein-encoding genes in 13 primary serous endometrial tumors. We subsequently resequenced 18 genes, which were mutated in more than 1 tumor and/or were components of an enriched functional grouping, from 40 additional serous tumors. We identified high frequencies of somatic mutations in CHD4 (17%), EP300 (8%), ARID1A (6%), TSPYL2 (6%), FBXW7 (29%), SPOP (8%), MAP3K4 (6%) and ABCC9 (6%). Overall, 36.5% of serous tumors had a mutated chromatin-remodeling gene, and 35% had a mutated ubiquitin ligase complex gene, implicating frequent mutational disruption of these processes in the molecular pathogenesis of one of the deadliest forms of endometrial cancer.
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Metadata
- Authors
- NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program, Le Gallo, M., O'Hara, A. J., Rudd, M. L., Urick, M. E., Hansen, N. F., O'Neil, N. J., Price, J. C., Zhang, S., England, B. M., Godwin, A. K., Sgroi, D. C., Hieter, P., Mullikin, J. C., Merino, M. J., & Bell, D. W.
- Venue
- Nature Genetics
- Published
- 2012-10-28
- Volume
- 44
- Issue
- 12
- Pages
- 1310-1315
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2028878627
- Cited by
- 419
- References
- 61
- FWCI
- 15.68
- Type
- journal article
- Language
- en
- Open access
- green
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- NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program, Le Gallo, M., O'Hara, A. J., Rudd, M. L., Urick, M. E., Hansen, N. F., O'Neil, N. J., Price, J. C., Zhang, S., England, B. M., Godwin, A. K., Sgroi, D. C., Hieter, P., Mullikin, J. C., Merino, M. J., & Bell, D. W. (2012). Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes. Nature Genetics. https://doi.org/10.1038/ng.2455
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