Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance

Research output: Contribution to journalJournal articleResearchpeer-review

  • Peina Du
  • Peide Huang
  • Xuanlin Huang
  • Xiangchun Li
  • Zhimin Feng
  • Fengyu Li
  • Shaoguang Liang
  • Yongmei Song
  • Stenvang, Jan
  • Brünner, Nils
  • Huanming Yang
  • Yunwei Ou
  • Qiang Gao
  • Lin Li

Oesophageal carcinoma is the fourth leading cause of cancer-related death in China, and more than 90% of these tumours are oesophageal squamous cell carcinoma (ESCC). Although several ESCC genomic sequencing studies have identified mutated somatic genes, the number of samples in each study was relatively small, and the molecular basis of ESCC has not been fully elucidated. Here, we performed an integrated analysis of 490 tumours by combining the genomic data from 7 previous ESCC projects. We identified 18 significantly mutated genes (SMGs). PTEN, DCDC1 and CUL3 were first reported as SMGs in ESCC. Notably, the AJUBA mutations and mutational signature4 were significantly correlated with a poorer survival in patients with ESCC. Hierarchical clustering analysis of the copy number alteration (CNA) of cancer gene census (CGC) genes in ESCC patients revealed three subtypes, and subtype3 exhibited more CNAs and marked for worse prognosis compared with subtype2. Moreover, database annotation suggested that two significantly differential CNA genes (PIK3CA and FBXW7) between subtype3 and subtype2 may serve as therapeutic drug targets. This study has extended our knowledge of the genetic basis of ESCC and shed some light into the clinical relevance, which would help improve the therapy and prognosis of ESCC patients.

Original languageEnglish
Article number15324
JournalScientific Reports
Number of pages9
Publication statusPublished - Dec 2017

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