The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma
Open accessAbstract
Uterine serous carcinoma (USC) is a biologically aggressive subtype of endometrial cancer. We analyzed the mutational landscape of USC by whole-exome sequencing of 57 cancers, most of which were matched to normal DNA from the same patients. The distribution of the number of protein-altering somatic mutations revealed that 52 USC tumors had fewer than 100 (median 36), whereas 5 had more than 3,000 somatic mutations. The mutations in these latter tumors showed hallmarks of defects in DNA mismatch repair. Among the remainder, we found a significantly increased burden of mutation in 14 genes. In addition to well-known cancer genes (i.e., TP53 , PIK3CA , PPP2R1A , KRAS , FBXW7 ), there were frequent mutations in CHD4/Mi2b , a member of the NuRD–chromatin-remodeling complex, and TAF1 , an element of the core TFIID transcriptional machinery. Additionally, somatic copy-number variation was found to play an important role in USC, with 13 copy-number gains and 12 copy-number losses that occurred more often than expected by chance. In addition to loss of TP53 , we found frequent deletion of a small segment of chromosome 19 containing MBD3 , also a member of the NuRD–chromatin-modification complex, and frequent amplification of chromosome segments containing PIK3CA , ERBB2 (an upstream activator of PIK3CA), and CCNE1 (a target of FBXW7-mediated ubiquitination). These findings identify frequent mutation of DNA damage, chromatin remodeling, cell cycle, and cell proliferation pathways in USC and suggest potential targets for treatment of this lethal variant of endometrial cancer.
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Comprehensive molecular characterization of human colon and rectal cancer
The Cancer Genome Atlas Network (2012) · Nature · doi:10.1038/nature11252 · Cited by 8,499
IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype
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A comprehensive catalogue of somatic mutations from a human cancer genome
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Cyclin D as a therapeutic target in cancer
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Mutant PIK3CA promotes cell growth and invasion of human cancer cells.
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Cited by
Skoulidis, F., Byers, L. A., Diao, L., Papadimitrakopoulou, V. A., Tong, P., Izzo, J., Behrens, C., Kadara, H., Parra, E. R., Canales, J. R., et al. (2015) · Cancer Discovery · doi:10.1158/2159-8290.cd-14-1236 · Cited by 936
Self-citationMethyl-cpG-binding domain proteins: readers of the epigenome
Du, Q., Luu, P.-L., Stirzaker, C., & Clark, S. J. (2015) · Epigenomics · doi:10.2217/epi.15.39 · Cited by 544
Genomic landscape of cutaneous T cell lymphoma
Choi, J., Goh, G., Walradt, T., Hong, B. S., Bunick, C. G., Chen, K., Bjornson, R. D., Maman, Y., Wang, T., Tordoff, J., et al. (2015) · Nature Genetics · doi:10.1038/ng.3356 · Cited by 428
Self-citationInterpretation of somatic POLE mutations in endometrial carcinoma
León‐Castillo, A., Britton, H., McConechy, M. K., McAlpine, J. N., Nout, R., Kommoss, S., Brucker, S. Y., Carlson, J. W., Epstein, E., Rau, T. T., et al. (2020) · The Journal of Pathology · doi:10.1002/path.5372 · Cited by 409
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Metadata
- Authors
- Zhao, S., Choi, M., Overton, J. D., Bellone, S., Roque, D. M., Cocco, E., Guzzo, F., English, D. P., Varughese, J., Gasparrini, S., Bortolomai, I., Buza, N., Hui, P., Abu-Khalaf, M., Ravaggi, A., Bignotti, E., Bandiera, E., Romani, C., Todeschini, P., Tassi, R., Zanotti, L., Carrara, L., Pecorelli, S., Silasi, D.-A., Ratner, E., Azodi, M., Schwartz, P. E., Rutherford, T. J., Stiegler, A. L., Mane, S., Boggon, T. J., Schlessinger, J., Lifton, R. P., & Santin, A. D.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2013-01-28
- Volume
- 110
- Issue
- 8
- Pages
- 2916-2921
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1984136423
- Cited by
- 320
- References
- 8
- FWCI
- 34.99
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma. https://app.cochat.ai/papers/10.1073/pnas.1222577110
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- Zhao, S., Choi, M., Overton, J. D., Bellone, S., Roque, D. M., Cocco, E., Guzzo, F., English, D. P., Varughese, J., Gasparrini, S., Bortolomai, I., Buza, N., Hui, P., Abu-Khalaf, M., Ravaggi, A., Bignotti, E., Bandiera, E., Romani, C., Todeschini, P., . . . Santin, A. D. (2013). Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1222577110
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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