title: A comprehensive genomic characterization of esophageal squamous cell carcinoma: from prognostic analysis to in vivo assay.
abstract: BACKGROUND
  Esophageal squamous cell carcinoma (ESCC) is a leading cause of cancer death worldwide and is characterized by numerous genetic mutations. TNM staging is not sufficient for predicting patient outcomes. Additionally, ESCC shows poor responsiveness to chemotherapy and radiation. Thus, there is an urgent need to find efficient therapy targets. Previous ESCC high-throughput genomic studies have lacked intensive survival analysis, particularly for copy number variation (CNV) and the genes involved.
  
  
  METHODS
  In the study "Genomic Characterization of Esophageal Squamous Cell Carcinoma Reveals Critical Genes Underlying Tumorigenesis and Poor Prognosis" recently published in the American Journal of Human Genetics, we comprehensively analyzed the effects of CNVs, mutations, and relative gene expression on patient outcomes. To validate our findings for our 67 sequencing samples, we collected a 321-patient retrospective cohort with detailed 5-year follow-up information and carried out univariate and multivariate survival analyses. In addition, the biological functions of the survival predictors in ESCC were investigated both in vitro and in vivo.
  
  
  CONCLUSIONS
  We found the independent ESCC survival predictors and potential therapy targets. Nevertheless, the effects of numerous low-frequency mutations need to be explored using larger sample sequencing. Overall, constructing multi-gene prognostic signatures will remain a great challenge in the future.
authors: Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, 510060, Guangdong, P. R. China.
authors: Yuan-Bin
authors: YB
authors: Chen
authors: Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, 510060, Guangdong, P. R. China. jiawh@sysucc.org.cn.
authors: Wei-Hua
authors: WH
authors: Jia
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000628:therapy; D059248:Chemoradiotherapy / Q000401:mortality*; D056915:DNA Copy Number Variations / Q000235:genetics*; D004938:Esophageal Neoplasms / Q000235:genetics* / Q000628:therapy; D005500:Follow-Up Studies; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D011379:Prognosis; D012189:Retrospective Studies; D015996:Survival Rate
keywords: Copy number variation; Esophageal squamous cell carcinoma; Prognostic analysis