title: Frameshift mutations in the MBD4/MED1 gene in primary gastric cancer with high-frequency microsatellite instability.
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.
authors.affiliation: Second Department of Surgery, Gunma University Faculty of Medicine, 39-15, Showa-machi 3-chome, Maebashi, Gunma 371-8511, Japan.
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Yamada
authors.forename: Toru
authors.initials: T
authors.lastname: Koyama
authors.forename: Susumu
authors.initials: S
authors.lastname: Ohwada
authors.forename: Ken-ichi
authors.initials: K
authors.lastname: Tago
authors.forename: Ichiro
authors.initials: I
authors.lastname: Sakamoto
authors.forename: Sumihiko
authors.initials: S
authors.lastname: Yoshimura
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Hamada
authors.forename: Izumi
authors.initials: I
authors.lastname: Takeyoshi
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Morishita
mesh_terms: D000368:Aged; D020137:Base Pair Mismatch; D003110:Colonic Neoplasms / Q000235:genetics; D004252:DNA Mutational Analysis; D004706:Endodeoxyribonucleases / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D013274:Stomach Neoplasms
chemical_list: D004706:Endodeoxyribonucleases; C118712:MBD4 protein, human