Exome sequencing identifies early gastric carcinoma as an early stage of advanced gastric cancer

PLoS One. 2013 Dec 23;8(12):e82770. doi: 10.1371/journal.pone.0082770. eCollection 2013.


Gastric carcinoma is one of the major causes of cancer-related mortality worldwide. Early detection and treatment leads to an excellent prognosis in patients with early gastric cancer (EGC), whereas the prognosis of patients with advanced gastric cancer (AGC) remains poor. It is unclear whether EGCs and AGCs are distinct entities or whether EGCs are the beginning stages of AGCs. We performed whole exome sequencing of four samples from patients with EGC and compared the results with those from AGCs. In both EGCs and AGCs, a total of 268 genes were commonly mutated and independent mutations were additionally found in EGCs (516 genes) and AGCs (3104 genes). A higher frequency of C>G transitions was observed in intestinal-type compared to diffuse-type carcinomas (P = 0.010). The DYRK3, GPR116, MCM10, PCDH17, PCDHB1, RDH5 and UNC5C genes are recurrently mutated in EGCs and may be involved in early carcinogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Early Detection of Cancer / methods*
  • Exome / genetics*
  • Female
  • Humans
  • Male
  • Microsatellite Instability
  • Middle Aged
  • Mutation / genetics
  • Neoplasm Staging
  • Sequence Analysis, DNA / methods*
  • Stomach Neoplasms / diagnosis*
  • Stomach Neoplasms / genetics*
  • Stomach Neoplasms / pathology

Grants and funding

This study was supported by a grant from the National Research Foundation of Korea (2012-P4KR 003) and a Samsung Biomedical Research Institute grant (#SBRI-SP1B20111). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.