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Cited by 329

The DOI matches its Crossref record; 47 of the 47 references it cites were found in a registry or an index.

Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma

Open access
Zhang, Ling, Zhou, Yong, Cheng, Caixia, Cui, Heyang, Cheng, Le, Kong, Pengzhou, Wang, Jiaqian, Li, Yin, Chen, Wenliang, Song, Bin, Wang, Fang, Jia, Zhiwu, Li, Lin, Li, Yaoping, Yang, Bin, Liu, Jing, Shi, Ruyi, Bi, Yanghui, Zhang, Yanyan, Wang, Juan, Zhao, Zhenxiang, Hu, Xiaoling, Yang, Jie, Li, Hongyi, Gao, Zhibo, Chen, Gang, Huang, Xuanlin, Yang, Xukui, Wan, Shengqing, Chen, Chao, Li, Bin, Tan, Yongkai, Chen, Longyun, He, Minghui, Xie, Sha, Li, Xiangchun, Zhuang, Xuehan, Wang, Mengyao, Xia, Zhi, Luo, Longhai, Ma, Jie, Dong, Bing, Zhao, Jiuzhou, Song, Yongmei, Ou, Yunwei, Li, Enming, Xu, Liyan, Wang, Jinfen, Xi, Yanfeng, Li, Guodong, Xu, Enwei, Liang, Jianfang, Yang, Xiaofeng, Guo, Jiansheng, Chen, Xing, Zhang, Yanbo, Li, Qingshan, Liu, Lixin, Li, Yingrui, Zhang, Xiuqing, Yang, Huanming, Lin, Dongxin, Cheng, Xiaolong, Guo, Yongjun, Wang, Jun, Zhan, Qimin, Cui, Yongping·2015·The American Journal of Human Genetics
DOI 10.1016/j.ajhg.2015.02.017
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Abstract

Esophageal squamous cell carcinoma (ESCC) is one of the most common cancers worldwide and the fourth most lethal cancer in China. However, although genomic studies have identified some mutations associated with ESCC, we know little of the mutational processes responsible. To identify genome-wide mutational signatures, we performed either whole-genome sequencing (WGS) or whole-exome sequencing (WES) on 104 ESCC individuals and combined our data with those of 88 previously reported samples. An APOBEC-mediated mutational signature in 47% of 192 tumors suggests that APOBEC-catalyzed deamination provides a source of DNA damage in ESCC. Moreover, PIK3CA hotspot mutations (c.1624G>A [p.Glu542Lys] and c.1633G>A [p.Glu545Lys]) were enriched in APOBEC-signature tumors, and no smoking-associated signature was observed in ESCC. In the samples analyzed by WGS, we identified focal (<100 kb) amplifications of CBX4 and CBX8. In our combined cohort, we identified frequent inactivating mutations in AJUBA, ZNF750, and PTCH1 and the chromatin-remodeling genes CREBBP and BAP1, in addition to known mutations. Functional analyses suggest roles for several genes (CBX4, CBX8, AJUBA, and ZNF750) in ESCC. Notably, high activity of hedgehog signaling and the PI3K pathway in approximately 60% of 104 ESCC tumors indicates that therapies targeting these pathways might be particularly promising strategies for ESCC. Collectively, our data provide comprehensive insights into the mutational signatures of ESCC and identify markers for early diagnosis and potential therapeutic targets.

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Metadata

Authors
Zhang, L., Zhou, Y., Cheng, C., Cui, H., Cheng, L., Kong, P., Wang, J., Li, Y., Chen, W., Song, B., Wang, F., Jia, Z., Li, L., Li, Y., Yang, B., Liu, J., Shi, R., Bi, Y., Zhang, Y., Wang, J., Zhao, Z., Hu, X., Yang, J., Li, H., Gao, Z., Chen, G., Huang, X., Yang, X., Wan, S., Chen, C., Li, B., Tan, Y., Chen, L., He, M., Xie, S., Li, X., Zhuang, X., Wang, M., Xia, Z., Luo, L., Ma, J., Dong, B., Zhao, J., Song, Y., Ou, Y., Li, E., Xu, L., Wang, J., Xi, Y., Li, G., Xu, E., Liang, J., Yang, X., Guo, J., Chen, X., Zhang, Y., Li, Q., Liu, L., Li, Y., Zhang, X., Yang, H., Lin, D., Cheng, X., Guo, Y., Wang, J., Zhan, Q., & Cui, Y.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2015-04
Volume
96
Issue
4
Pages
597-611
ISSN
0002-9297 (ISSN-L)
DOI
10.1016/j.ajhg.2015.02.017
OpenAlex
W2075453277
Cited by
329
References
47
FWCI
32.72
Type
journal article
Language
en
Open access
hybrid

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The paper
Zhang, L., Zhou, Y., Cheng, C., Cui, H., Cheng, L., Kong, P., Wang, J., Li, Y., Chen, W., Song, B., Wang, F., Jia, Z., Li, L., Li, Y., Yang, B., Liu, J., Shi, R., Bi, Y., Zhang, Y., . . . Cui, Y. (2015). Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2015.02.017

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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.