A comprehensive genomic characterization of esophageal squamous cell carcinoma：from prognostic analysis to in vivo assay
10.1186/s40880-016-0142-y
- Author:
Chen YUAN-BIN
1
;
Jia WEI-HUA
Author Information
1. Sun Yat-sen University Cancer Center
- Keywords:
Esophageal squamous cell carcinoma;
Copy number variation;
Prognostic analysis
- From:Chinese Journal of Cancer
2016;35(9):435-437
- CountryChina
- Language:Chinese
-
Abstract:
Background: Esophageal squamous cell carcinoma (ESCC) is a leading cause of cancer death worldwide and is char?acterized by numerous genetic mutations. TNM staging is not sufcient for predicting patient outcomes. Addition?ally, ESCC shows poor responsiveness to chemotherapy and radiation. Thus, there is an urgent need to find efcient therapy targets. Previous ESCC high?throughput genomic studies have lacked intensive survival analysis, particularly for copy number variation (CNV) and the genes involved. Main body: 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, con?structing multi?gene prognostic signatures will remain a great challenge in the future.
