title: Clinical and molecular analysis of hereditary non-polyposis colorectal cancer in Chinese colorectal cancer patients.
abstract: OBJECTIVE
  To analyze the frequency of hereditary non-polyposis colorectal cancer (HNPCC) in Chinese colorectal cancer (CRC) patients, and to discuss the value of microsatellite instability (MSI) and/or immunohistochemistry (IHC) for MSH2/MLH1 protein analysis as pre-screening tests in China.
  
  
  METHODS
  The Amsterdam criteria I and II (clinical diagnosis) and/or germline hMLH1/hMSH2 mutations (genetic diagnosis) were used to classify HNPCC families. Genetic tests, including microsatellite instability, immunohistochemistry for MSH2/MLH1 proteins and hMSH2/hMLH1 genes, were performed in each proband.
  
  
  RESULTS
  From July 2000 to June 2004, 1988 patients with colorectal cancer were analysed and 114 CRC patients (5.7%) from 48 families were categorized as having HNPCC, including 76 from 26 families diagnosed clinically and 38 from the other 22 families diagnosed genetically. The sensitivity and specificity of high MSI and IHC for predicting mutations were 100% and 54%, and 79% and 77%, respectively.
  
  
  CONCLUSIONS
  The frequency of HNPCC is approximately 10% among all Chinese CRC cases. The MSI and IHC detections for hMSH2/hMLH1 proteins are reliable pre-screening tests for hMLH1/hMSH2 germline mutations in families suspected of having HNPCC.
authors.affiliation: Hereditary Colorectal Tumors Registry, Tianjin Binjiang Hospital, Tianjin 300022, China. Binjiang chinahcc@vip.sina.com
authors.forename: Jun
authors.initials: J
authors.lastname: Wang
authors.forename: Mao-Hong
authors.initials: MH
authors.lastname: Luo
authors.forename: Zuo-Xing
authors.initials: ZX
authors.lastname: Zhang
authors.forename: Pei-Da
authors.initials: PD
authors.lastname: Zhang
authors.forename: Xi-Li
authors.initials: XL
authors.lastname: Jiang
authors.forename: Dong-Wang
authors.initials: DW
authors.lastname: Ma
authors.forename: Rong-Zeng
authors.initials: RZ
authors.lastname: Suo
authors.forename: Li-Zhong
authors.initials: LZ
authors.lastname: Zhao
authors.forename: Qing-Hui
authors.initials: QH
authors.lastname: Qi
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins / Q000235:genetics; D002681:China / Q000453:epidemiology; D015179:Colorectal Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D015972:Gene Expression Regulation, Neoplastic; D005820:Genetic Testing / Q000379:methods; D018095:Germ-Line Mutation / Q000235:genetics; D017408:Guidelines as Topic; D006801:Humans; D015994:Incidence; D053842:Microsatellite Instability; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D011446:Prospective Studies; D012680:Sensitivity and Specificity
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D004273:DNA, Neoplasm; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein