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Frameshift mutations in the MBD4/MED1 gene in primary gastric cancer with high-frequency microsatellite instability
Tatsuya Yamada1, Toru Koyama, Susumu Ohwada
1Second Department of Surgery, Gunma University Faculty of Medicine, 39-15, Showa-machi 3-chome, Maebashi, Gunma 371-8511, Japan.
Abstract:
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.