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Frameshift Mutations at Coding Mononucleotide Repeats of the hRAD50 Gene in Gastrointestinal Carcinomas with Microsatellite Instability

 Nam-Gyun Kim  ;  Yon Rak Choi  ;  Myung Jin Baek  ;  Yun Hee Kim  ;  Haeyoun Kang  ;  Nam Kyu Kim  ;  Jin Sik Min  ;  Hoguen Kim 
 CANCER RESEARCH, Vol.61(1) : 36-38, 2001 
Journal Title
Issue Date
Adenocarcinoma/genetics* ; Adenosine Triphosphatases/genetics ; Ataxia Telangiectasia Mutated Proteins ; Cell Cycle Proteins ; Colorectal Neoplasms/genetics* ; DNA Helicases/genetics ; DNA Mutational Analysis ; DNA Repair/genetics ; DNA Repair Enzymes* ; DNA-Binding Proteins/genetics* ; Frameshift Mutation* ; Genes, BRCA1/genetics ; Humans ; Microsatellite Repeats/genetics* ; Nuclear Proteins/genetics ; Protein-Serine-Threonine Kinases/genetics ; RecQ Helicases ; Stomach Neoplasms/genetics* ; Tumor Suppressor Proteins
Microsatellite instability (MSI) and frameshift mutations in genes containing nucleotide repeats have been reported in a subset of colorectal and gastric carcinomas. This study describes the analysis of MSI-positive colorectal (39 cases) and gastric carcinomas (36 cases) for the presence of frameshift mutations of the six genes known to be involved in DNA repair and containing mononucleotide repeats in their coding region. Our mutational study of the 75 MSI-positive tumors revealed frequent mutations in hRAD50 (23 cases, 31%), BLM (16 cases, 21%), and hMSH6 (16 cases, 21%); rare mutations in BRCA1 (1 case, 1%) and ATM (3 cases, 4%); and no mutation in NBS1. In contrast, no frameshift mutation was found in 60 MSI-negative colorectal and gastric carcinomas. The mutation of hRAD50, a gene that is involved in the response to cellular DNA damage and forms a complex with hMRE11 and NBS1, has not been reported previously. Our results suggest that frameshift mutations of hRAD50, BLM, and hMSH6 are selected and play a role in the tumorigenesis of colorectal and gastric carcinomas with MSI. The MSI targeting of the hRAD50 and BLM genes represents an additional link between MSI and DNA repair because alteration of these genes could accelerate defective DNA repair.
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1. College of Medicine (의과대학) > Medical Research Center (임상의학연구센터) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Kim, Nam Kyu(김남규) ORCID logo https://orcid.org/0000-0003-0639-5632
Kim, Nam Gyun(김남균)
Kim, Hogeun(김호근)
Min, Jin Sik(민진식)
Baek, Myung Jin(백명진)
Choi, Yon Rak(최연락)
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