ArticleAmerican journal of human genetics2015
Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma.
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Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It carries an expression of concern. Cited by 214 papers, 3 of them syntheses that pooled it.
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214citing papers in PubMed, 3 pooled it
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Who cites it
214 citing papers in PubMed, 3 syntheses or guidelines pooled it, 341 citations in OpenAlex.
- A practical framework RNMF for exploring the association between mutational signatures and genes using gene cumulative contribution abundance.Cancer medicine · 2022Pooled it
- The safety and efficacy of endoscopic submucosal dissection for treating early oesophageal carcinoma: a meta-analysis.Annals of the Royal College of Surgeons of England · 2020Pooled it
- A mutational signature associated with alcohol consumption and prognostically significantly mutated driver genes in esophageal squamous cell carcinoma.Annals of oncology : official journal of the European Society for Medical Oncology · 2018Pooled it
- Impaired TGF-β signaling via AHNAK family mutations elicits an esophageal cancer subtype with sensitivities to genotoxic therapy and immunotherapy.Cancer immunology, immunotherapy : CII · 2024Trial
- Human papillomavirus and the landscape of secondary genetic alterations in oral cancers.Genome research · 2019Trial
- Analysis of cancer mutations introduced into theeLife · 2026Article
- Advances in multi-omics for esophageal squamous cell carcinoma: diagnostic, prognostic, and therapeutic perspectives.Protein & cell · 2026Review
- Article
- Focal adhesion kinase/Src family kinase axis-mediated tyrosine phosphorylation of metabolic enzymes facilitates tumor metastasis.Signal transduction and targeted therapy · 2025Article
- Extremely early genomic events and temporal order of esophageal squamous cell carcinogenesis: Longitudinal self-comparison of progressors and non-progressors.American journal of human genetics · 2025Article
- Copy number amplification of TTPAL promotes cholesterol biosynthesis and esophageal squamous cell carcinoma progression via elevating NSUN2-mediated m5C modification of SREBP2 mRNA.Journal of experimental & clinical cancer research : CR · 2025Article
- Multi-omics analysis reveals immunosuppression in oesophageal squamous cell carcinoma induced by creatine accumulation and HK3 deficiency.Genome medicine · 2025Article
- Interplay and cooperation between GLI2 and master transcription factors promote progression of esophageal squamous cell carcinoma.American journal of human genetics · 2025Article
- TOM1L1 mediated the sort of tumor suppressive miR-378a-3p into exosomes and the excretion out of cells to promote ESCC progression.Cancer gene therapy · 2025Article
- Aldh2 and the tumor suppressor Trp53 play important roles in alcohol-induced squamous field cancerization.Journal of gastroenterology · 2025Article
- MEIS1 knockdown upregulates WNT signaling pathway genes in esophageal squamous cell carcinoma.BMC medical genomics · 2025Article
- Data-Driven Molecular Typing: A New Frontier in Esophageal Cancer Management.Cancer medicine · 2025Review
- Review
- Multiscale simulations reveal architecture of NOTCH protein and ligand specific features.Biophysical journal · 2025Article
- Molecular profiling of head and neck squamous cell carcinomas in North-eastern Italy identifies possible tumour cell vulnerabilities.Translational oncology · 2025Article
154 more citing papers are in PubMed but not listed here.
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Authors and funding
67 authors at 9 institutions in 1 country.
Ling ZhangTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Yong ZhouBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Caixia ChengTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Department of Pathology, First Hospital, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Heyang CuiTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, Shanxi 030001, China; BGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Le ChengBGI-Yunnan, Kunming, Yunnan 650000, China.
Pengzhou KongTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Jiaqian WangBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Yin LiDepartment of Thoracic Surgery, Henan Cancer Hospital, Zhengzhou, Henan 450008, China.
Wenliang ChenBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Bin SongTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Fang WangTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Zhiwu JiaTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Lin LiBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Yaoping LiTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Department of Tumor Surgery, Shanxi Cancer Hospital, Taiyuan, Shanxi 030001, China.
Bin YangTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Department of Tumor Surgery, Shanxi Cancer Hospital, Taiyuan, Shanxi 030001, China.
Jing LiuTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Department of General Surgery, First Hospital, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Ruyi ShiTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Yanghui BiTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Yanyan ZhangTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Department of General Surgery, First Hospital, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Juan WangTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Zhenxiang ZhaoTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Xiaoling HuTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Jie YangTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Hongyi LiTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Zhibo GaoBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Gang ChenBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Xuanlin HuangBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Xukui YangBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Shengqing WanBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Chao ChenBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Bin LiBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Yongkai TanBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Longyun ChenBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Minghui HeBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Sha XieBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Xiangchun LiBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Xuehan ZhuangBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Mengyao WangBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Zhi XiaBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Longhai LuoBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Jie MaDepartment of Molecular Pathology, Henan Cancer Hospital, Zhengzhou, Henan 450008, China.
Bing DongDepartment of Molecular Pathology, Henan Cancer Hospital, Zhengzhou, Henan 450008, China.
Jiuzhou ZhaoDepartment of Molecular Pathology, Henan Cancer Hospital, Zhengzhou, Henan 450008, China.
Yongmei SongState Key Laboratory of Molecular Oncology, Cancer Institute and Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China.
Yunwei OuState Key Laboratory of Molecular Oncology, Cancer Institute and Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China.
Enming LiInstitute of Oncologic Pathology, Shantou University Medical College, Shantou 515041, China.
Liyan XuInstitute of Oncologic Pathology, Shantou University Medical College, Shantou 515041, China.
Jinfen WangDepartment of Pathology, Shanxi Cancer Hospital, Taiyuan, Shanxi 030001, China.
Yanfeng XiDepartment of Pathology, Shanxi Cancer Hospital, Taiyuan, Shanxi 030001, China.
Guodong LiDepartment of Pathology, Shanxi Cancer Hospital, Taiyuan, Shanxi 030001, China.
Enwei XuDepartment of Pathology, Shanxi Cancer Hospital, Taiyuan, Shanxi 030001, China.
Jianfang LiangDepartment of Pathology, First Hospital, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Xiaofeng YangDepartment of Urology, First Hospital, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Jiansheng GuoDepartment of General Surgery, First Hospital, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Xing ChenDepartment of Endoscopy, Shanxi Provincial People's Hospital, Taiyuan, Shanxi 030001, China.
Yanbo ZhangDepartment of Statistics, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Qingshan LiSchool of Pharmaceutical Sciences, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Lixin LiuExperimental Center of Science and Research, First Hospital, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Yingrui LiBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Xiuqing ZhangBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Huanming YangBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Dongxin LinState Key Laboratory of Molecular Oncology, Cancer Institute and Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China.
Xiaolong ChengTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Yongjun GuoDepartment of Molecular Pathology, Henan Cancer Hospital, Zhengzhou, Henan 450008, China.
Jun WangBGI-Shenzhen, Shenzhen, Guangdong 518083, China.
Qimin ZhanState Key Laboratory of Molecular Oncology, Cancer Institute and Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China. Electronic address: zhanqimin@pumc.edu.cn.
Yongping CuiTranslational Medicine Research Center, Shanxi Medical University, Taiyuan, Shanxi 030001, China; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, Shanxi 030001, China. Electronic address: cuiy0922@yahoo.com.
BGI Group (China) · CNShanxi Medical University · CNShanxi Provincial Cancer Hospital · CNFirst Hospital of Shanxi Medical University · CNHenan Cancer Hospital · CNChinese Academy of Medical Sciences & Peking Union Medical College · CNShaanxi Provincial People's Hospital · CNShantou University · CNShantou University Medical College · CN
Funding
No grant is acknowledged in the PubMed record.
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.
Indexed as
Analysis of VarianceAPOBEC-1 DeaminaseBase SequenceCarcinoma, Squamous CellCell Line, TumorChinaClass I Phosphatidylinositol 3-KinasesCREB-Binding ProteinCytidine DeaminaseDNA Copy Number VariationsEsophageal NeoplasmsEsophageal Squamous Cell CarcinomaGene Knockdown TechniquesGenetic Predisposition to DiseaseGenome, HumanHumansAJUBA protein, humanAPOBEC-1 DeaminaseAPOBEC1 protein, humanBAP1 protein, humanCBX4 protein, humanCBX8 protein, humanClass I Phosphatidylinositol 3-KinasesCREB-Binding ProteinCREBBP protein, humanCytidine DeaminaseLigasesLIM Domain ProteinsPatched-1 ReceptorPatched ReceptorsPhosphatidylinositol 3-KinasesPIK3CA protein, humanPolycomb-Group ProteinsPolycomb Repressive Complex 1PTCH1 protein, humanReceptors, Cell SurfaceTetrazolium SaltsThiazolesthiazolyl blueTranscription FactorsTumor Suppressor ProteinsUbiquitin-Protein LigasesUbiquitin ThiolesteraseZNF750 protein, human
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