title: [Study of germline mutation of hMSH2, hMSH6 and hMLH1 and methylation of hMLH1 in microsatellite instability colorectal cancer].
abstract: OBJECTIVE
  To study the characteristics of germline mutations of hMLH1, hMSH2 and hMSH6 and promoter methylation status of MLH1 in patients with MSI colorectal cancer.
  
  
  METHODS
  Sequence analysis of germline mutation and promoter methylation of MLH1 in 34 prospective collected patients with MSI colorectal cancer were performed.
  
  
  RESULTS
  Nineteen 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.
  
  
  CONCLUSIONS
  There are some different characteristics of the germline mutations of hMLH1, hMSH2 and hMSH6 and promoter methylation of MLH1 in Chinese MSI colorectal patients.
authors.affiliation: National Center of Colorectal Surgery, The Third Affiliated Hospital, Nanjing University of TCM, Nanjing, China.
authors.forename: Min
authors.initials: M
authors.lastname: Ni
authors.forename: Hei-Ying
authors.initials: HY
authors.lastname: Jin
authors.forename: Yi-Jiang
authors.initials: YJ
authors.lastname: Ding
authors.forename: Fei
authors.initials: F
authors.lastname: Liu
authors.forename: Shu-Qing
authors.initials: SQ
authors.lastname: Ding
authors.forename: Zhi-Min
authors.initials: ZM
authors.lastname: Fan
authors.forename: Ye-Huang
authors.initials: YH
authors.lastname: Wang
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000368:Aged; D020137:Base Pair Mismatch; D015179:Colorectal Neoplasms / Q000235:genetics*; D019175:DNA Methylation; D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D053842:Microsatellite Instability; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein