Study of germline mutation of hMSH2, hMSH6 and hMLH1 and methylation of hMLH1 in microsatellite instability colorectal cancer.
- Author:
Min NI
1
;
Hei-Ying JIN
;
Yi-Jiang DING
;
Fei LIU
;
Shu-Qing DING
;
Zhi-Min FAN
;
Ye-Huang WANG
Author Information
- Publication Type:Journal Article
- MeSH: Adaptor Proteins, Signal Transducing; genetics; Aged; Base Pair Mismatch; Colorectal Neoplasms; genetics; DNA Methylation; DNA, Neoplasm; DNA-Binding Proteins; genetics; Female; Germ-Line Mutation; Humans; Male; Microsatellite Instability; Middle Aged; MutL Protein Homolog 1; MutS Homolog 2 Protein; genetics; Nuclear Proteins; genetics; Sequence Analysis, DNA
- From: Chinese Journal of Gastrointestinal Surgery 2008;11(4):358-361
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the characteristics of germline mutations of hMLH1, hMSH2 and hMSH6 and promoter methylation status of MLH1 in patients with MSI colorectal cancer.
METHODSSequence analysis of germline mutation and promoter methylation of MLH1 in 34 prospective collected patients with MSI colorectal cancer were performed.
RESULTSNineteen out of 34 patients with MSI colorectal cancer were detected with hypermethylation of MLH1,which accounted for 55.9%. 73.7% MSI-H colorectal cancer cases and 33.3% MSI-L colorectal cancer cases were detected with hypermethylation of MLH1 and the difference was significant. Eight germline mutations were found, including 3 MSH6 mutations and 5 MSH2 mutations.
CONCLUSIONThere are some different characteristics of the germline mutations of hMLH1, hMSH2 and hMSH6 and promoter methylation of MLH1 in Chinese MSI colorectal patients.
