The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Genomic and molecular characterization of esophageal squamous cell carcinoma
Open accessAbstract
Esophageal squamous cell carcinoma (ESCC) is prevalent worldwide and particularly common in certain regions of Asia. Here we report the whole-exome or targeted deep sequencing of 139 paired ESCC cases, and analysis of somatic copy number variations (SCNV) of over 180 ESCCs. We identified previously uncharacterized mutated genes such as FAT1, FAT2, ZNF750 and KMT2D, in addition to those already known (TP53, PIK3CA and NOTCH1). Further SCNV evaluation, immunohistochemistry and biological analysis suggested their functional relevance in ESCC. Notably, RTK-MAPK-PI3K pathways, cell cycle and epigenetic regulation are frequently dysregulated by multiple molecular mechanisms in this cancer. Our approaches also uncovered many druggable candidates, and XPO1 was further explored as a therapeutic target because it showed both gene mutation and protein overexpression. Our integrated study unmasks a number of novel genetic lesions in ESCC and provides an important molecular foundation for understanding esophageal tumors and developing therapeutic targets.
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Mutational heterogeneity in cancer and the search for new cancer-associated genes
Lawrence, M. S., Stojanov, P., Polak, P., Kryukov, G. V., Cibulskis, K., Sivachenko, A., Carter, S. L., Stewart, C., Mermel, C. H., Roberts, S. A., et al. (2013) · Nature · doi:10.1038/nature12213 · Cited by 5,461
The landscape of somatic copy-number alteration across human cancers
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GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists
Eden, E., Navon, R., Steinfeld, I., Lipson, D., & Yakhini, Z. (2009) · BMC Bioinformatics · doi:10.1186/1471-2105-10-48 · Cited by 3,356
Systematic identification of genomic markers of drug sensitivity in cancer cells
Garnett, M. J., Edelman, E. J., Heidorn, S. J., Greenman, C. D., Dastur, A., Lau, K. W., Greninger, P., Thompson, I. R., Luo, X., Soares, J., et al. (2012) · Nature · doi:10.1038/nature11005 · Cited by 2,456
Frequent pathway mutations of splicing machinery in myelodysplasia
Yoshida, K., Sanada, M., Shiraishi, Y., Nowak, D., Nagata, Y., Yamamoto, R., Sato, Y., Sato-Otsubo, A., Kon, A., Nagasaki, M., et al. (2011) · Nature · doi:10.1038/nature10496 · Cited by 2,029
Self-citationThe clonal and mutational evolution spectrum of primary triple-negative breast cancers
Shah, S. P., Roth, A., Goya, R., Oloumi, A., Ha, G., Zhao, Y., Turashvili, G., Ding, J., Tse, K., Haffari, G., et al. (2012) · Nature · doi:10.1038/nature10933 · Cited by 1,967
Evolution and impact of subclonal mutations in chronic lymphocytic leukemia
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ZNF750 is a p63 target gene that induces KLF4 to drive terminal epidermal differentiation
Sen, G. L., Boxer, L. D., Webster, D. E., Bussat, R. T., Qu, K., Zarnegar, B. J., Johnston, D., Siprashvili, Z., & Khavari, P. A. (2012) · Developmental Cell · doi:10.1016/j.devcel.2011.12.001 · Cited by 246
Cited by
Maftools: efficient and comprehensive analysis of somatic variants in cancer
Mayakonda, A., Lin, D.-C., Assenov, Y., Plass, C., & Koeffler, H. P. (2018) · Genome Research · doi:10.1101/gr.239244.118 · Cited by 4,935
Self-citationPI3K/AKT/mTOR signaling transduction pathway and targeted therapies in cancer
Glaviano, A., Foo, A. S. C., Lam, H. Y., Yap, K. C. H., Jacot, W., Jones, R. H., Eng, H., Nair, M. G., Makvandi, P., Geoerger, B., et al. (2023) · Molecular Cancer · doi:10.1186/s12943-023-01827-6 · Cited by 2,138
Somatic mutant clones colonize the human esophagus with age
Martincorena, I., Fowler, J. C., Wabik, A., Lawson, A. R. J., Abascal, F., Hall, M. W. J., Cagan, A., Murai, K., Mahbubani, K., Stratton, M. R., et al. (2018) · Science · doi:10.1126/science.aau3879 · Cited by 1,113
Esophageal cancer: Risk factors, genetic association, and treatment
Huang, F.-L., & Yu, S.-J. (2018) · Asian Journal of Surgery · doi:10.1016/j.asjsur.2016.10.005 · Cited by 874
RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues
Yizhak, K., Aguet, F., Kim, J., Hess, J. M., Kübler, K., Grimsby, J., Frazer, R., Zhang, H., Haradhvala, N. J., Rosebrock, D., et al. (2019) · Science · doi:10.1126/science.aaw0726 · Cited by 500
Metadata
- Authors
- Lin, D.-C., Hao, J.-J., Nagata, Y., Xu, L., Shang, L., Meng, X., Sato, Y., Okuno, Y., Varela, A. M., Ding, L.-W., Garg, M., Liu, L.-Z., Yang, H., Yin, D., Shi, Z.-Z., Jiang, Y.-Y., Gu, W.-Y., Gong, T., Zhang, Y., Xu, X., Kalid, O., Shacham, S., Ogawa, S., Wang, M.-R., & Koeffler, H. P.
- Venue
- Nature Genetics
- Published
- 2014-03-30
- Volume
- 46
- Issue
- 5
- Pages
- 467-473
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2020534880
- Cited by
- 626
- References
- 8
- FWCI
- 50.48
- Type
- journal article
- Language
- en
- Open access
- green
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- Lin, D.-C., Hao, J.-J., Nagata, Y., Xu, L., Shang, L., Meng, X., Sato, Y., Okuno, Y., Varela, A. M., Ding, L.-W., Garg, M., Liu, L.-Z., Yang, H., Yin, D., Shi, Z.-Z., Jiang, Y.-Y., Gu, W.-Y., Gong, T., Zhang, Y., . . . Koeffler, H. P. (2014). Genomic and molecular characterization of esophageal squamous cell carcinoma. Nature Genetics. https://doi.org/10.1038/ng.2935
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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.
