title: [Screening the hereditary nonpolyposis colorectal cancer by revised Bethesda guideline: a cohort study of 110 cases].
abstract: OBJECTIVE
  To study the value of screening hereditary nonpolyposis colorectal cancer (HNPCC) by the revised Bethesda guideline and the rate of HNPCC in colorectal cancer (CRC).
  
  
  METHODS
  Tumor tissues and normal colorectal mucous membrane tissues were collected from 110 successive cases with CRC, 66 males and 42 females, aged 60.8 (26 - 94). Fluorescence multiplex polymerase chain reaction was used to detect the microsatellite instability (MSI). The peripheral blood samples were collected from the patients with MSI, genomic DNA was extracted, and PCR and DNA sequencing were used to detect the germline mutations of hMSH2, hMSH6, and hMLH1.
  
  
  RESULTS
  Twenty-three out of the 110 patients (20.9%), 12 males and 22 females, aged 57 (47 - 94), had MSI. Seven germline mutations were found in these 23 MSI patients, accounting for 6.4% among the 110 CRC patients, including 3 cases of hMSH2 mutation, 3 cases of hMSH6 mutation, and 1 case of mutation of hMLH1.
  
  
  CONCLUSIONS
  Screened by revised Bethesda guideline, the rate of MSI CRC is 20.9% and the rate of HNPCC is 6.4%. The missence germline mutations of hMSH2 and hMSH6 are more common in the Chinese patients with CRC.
authors.affiliation: National Center of Colorectal Surgery, Third Affiliated Hospital of Nanjing University of Traditional Chinese Medicine, Nanjing 210001, China. jinheiying@yahoo.com.cn
authors.forename: Hei-Ying
authors.initials: HY
authors.lastname: Jin
authors.forename: Yi-Jiang
authors.initials: YJ
authors.lastname: Ding
authors.forename: Xiu-Fang
authors.initials: XF
authors.lastname: Liu
authors.forename: Bo-Lin
authors.initials: BL
authors.lastname: Yang
authors.forename: Ren-Sheng
authors.initials: RS
authors.lastname: Lai
authors.forename: Min
authors.initials: M
authors.lastname: Ni
authors.forename: Yong-Sheng
authors.initials: YS
authors.lastname: Ge
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D005260:Female; D005820:Genetic Testing; 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; D016133:Polymerase Chain Reaction; D017410:Practice Guidelines as Topic