Mutation at intronic repeats of the ataxia-telangiectasia mutated (ATM) gene and ATM protein loss in primary gastric cancer with microsatellite instability.
作者： Hee Sung Kim , Seung Im Choi , Hae Lim Min , Min A. Kim , Woo Ho Kim
DOI: 10.1371/JOURNAL.PONE.0082769
关键词:
摘要: Ataxia-telangiectasia mutated (ATM) is a Ser/Thr protein kinase that plays critical role in DNA damage-induced signaling and initiation of cell cycle checkpoint response to DNA-damaging agents such as ionizing radiation. We have previously reported the ATM loss by immunohistochemistry (IHC) 16% human gastric cancer (GC) tissue. hypothesized gene intron mutations targeted microsatellite instability (MSI) cause subset GC. studied mononucleotide at gene, IHC MSI Ten lines were for mutation introns, RT-PCR, direct sequencing, immunohistochemistry. GC tissues 839 patients analyzed IHC. Among them, 604 cases introns preceding exon 6, 10 20. Two (SNU-1 -638) showed mutations, deletion RT-PCR The frequencies mutation, MSI, 12.9% (78/604), 9.2% (81/882) 15.2% (134/839), respectively. Analysis associations among revealed highly co-existing alterations MSI. detected 69.3% (52/75) 53.3% (40/75) positive positivity present 68.4% (52/76) 48.7% (37/76) with mutation. had characteristics old age, distal location tumor, large tumor size, histologic intestinal type. Our study might be interpreted lead selected group
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