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Whole exome sequencing of esophageal squamous cell carcinoma

Case:Nat Genet. 2014 Oct;46(10):1097-102.

Research summary

In 2014, Genetron Health collaborated with Dr. Jie He’s team at the Chinese Academy of Medical Sciences Cancer Institute and Hospital, revealing the genomic landscape of esophageal squamous carcinoma. Through whole exome sequencing, the research analyzed 113 esophageal squamous carcinoma samples and 8 esophageal squamous carcinoma cell lines, identifying 9,197 non-silent mutations and 2,825 silent mutations as well as 81 gene copy-number variations. The research highlighted the important roles of mutations in cell cycle regulators, apoptosis-related genes, histone modification enzyme genes as well as Notch and Hippo signaling pathways. The study also suggested a prognostic value of EP300 gene mutations.