Frameshift mutations in the MBD4/MED1 gene in primary gastric cancer with high-frequency microsatellite instability.
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.
Yamada
Tatsuya
T
Second Department of Surgery, Gunma University Faculty of Medicine, 39-15, Showa-machi 3-chome, Maebashi, Gunma 371-8511, Japan.
Koyama
Toru
T
Ohwada
Susumu
S
Tago
Ken-ichi
K
Sakamoto
Ichiro
I
Yoshimura
Sumihiko
S
Hamada
Kunihiro
K
Takeyoshi
Izumi
I
Morishita
Yasuo
Y
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
D004706:Endodeoxyribonucleases; C118712:MBD4 protein, human