Frameshift mutations in the MBD4/MED1 gene in primary gastric cancer with high-frequency microsatellite instability

Cancer Lett. 2002 Jul 8;181(1):115-20. doi: 10.1016/s0304-3835(02)00043-5.


MBD4/MED1 is a newly identified mismatch repair gene, which is mutated in colon, endometrial, and pancreatic high-frequency microsatellite instability (MSI-H) tumors. To assess its role in gastric cancers, we investigated MBD4/MED1 mutations in sporadic gastric cancers, compared with colon cancers. Frameshift mutations were found in 29% of gastric and 20% of colon MSI-H cancers, but not in any low-frequency microsatellite instability/microsatellite stable cancers. MBD4/MED1 is mutated in gastric cancers as frequently as in colon cancers; these mutations reduce the accuracy of DNA repair, and may lead to cancer progression.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Base Pair Mismatch
  • Colonic Neoplasms / genetics
  • DNA Mutational Analysis
  • Endodeoxyribonucleases / genetics*
  • Female
  • Frameshift Mutation
  • Humans
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Stomach Neoplasms


  • Endodeoxyribonucleases
  • MBD4 protein, human