食管鳞状细胞癌
外显子组测序
生物标志物
癌症研究
免疫疗法
基因敲除
基因
生物
突变
医学
癌
癌症
肿瘤科
遗传学
作者
Binbin Zou,Dinghe Guo,Pengzhou Kong,Yuan Wang,Xiaolong Cheng,Yongping Cui
标识
DOI:10.3389/fmolb.2021.792779
摘要
Due to the lack of effective diagnostic markers and therapeutic targets, esophageal squamous cell carcinoma (ESCC) shows a poor 5 years survival rate of less than 30%. To explore the potential therapeutic targets of ESCC, we integrated and reanalyzed the mutation data of WGS (whole genome sequencing) or WES (whole exome sequencing) from a total of 1,145 samples in 7 large ESCC cohorts, including 270 ESCC gene expression data. Two new mutation signatures and 20 driver genes were identified in our study. Among them, AP3S1 , MUC16 , and RPS15 were reported for the first time. We also discovered that the KMT2D was associated with the multiple clinical characteristics of ESCC, and KMT2D knockdown cells showed enhanced cell migration and cell invasion. Furthermore, a few neoantigens were shared between ESCC patients. For ESCC, compared to TMB, neoantigen might be treated as a better immunotherapy biomarker. Our research expands the understanding of ESCC mutations and helps the identification of ESCC biomarkers, especially for immunotherapy biomarkers.
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