Please use this identifier to cite or link to this item:
Title: Genomic and molecular characterization of esophageal squamous cell carcinoma
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.
Issue Date: 2014
Citation: 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. (2014). Genomic and molecular characterization of esophageal squamous cell carcinoma. Nature Genetics 46 (5) : 467-473. ScholarBank@NUS Repository.
Abstract: 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. © 2014 Nature America, Inc. All rights reserved.
Source Title: Nature Genetics
ISSN: 15461718
DOI: 10.1038/ng.2935
Appears in Collections:Staff Publications

Show full item record
Files in This Item:
There are no files associated with this item.


checked on Jan 23, 2019


checked on Jan 23, 2019

Page view(s)

checked on Jan 18, 2019

Google ScholarTM



Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.