Genetic detection of Chinese hereditary nonpolyposis colorectal cancer.
OBJECTIVE
To explore the germline mutations of the two main DNA mismatch repair genes (hMSH2 and hMLH1) between patients with hereditary non-polyposis colorectal cancer (HNPCC) and suspected (atypical) HNPCC.


METHODS
Genomic DNA was extracted from the peripheral blood of the index patient of each family, and germline mutations of hMSH2 and hMLH1 genes were detected by PCR-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing techniques.


RESULTS
For PCR-SSCP analysis, 67% (4/6) abnormal exons mobility in typical group and 33% (2/6) abnormal exons mobility in atypical group were recognized. In direct DNA sequencing, 50% (3/6) mutation of MMR genes in typical group and 33% (2/6) mutation of MMR genes in atypical group were found, and 4/6 (66.67%) and 1/6 (16.67%) mutations of hMSH2 and hMLH1 were identified in typical HNPCC and atypical HNPCC, respectively.


CONCLUSIONS
Mutation detection of the patients is of benefit to the analysis of HNPCC and, PCR-SSCP is an effective strategy to detect the mutations of HNPCC equivalent to direct DNA sequence. It seems that there exist more complicated genetic alterations in Chinese HNPCC patients than in Western countries.
Cui
Long
L
Department of Colorectal Surgery, Changhai Hospital, The Second Military Medical University, Shanghai 200433, China. cuilongdr@yahoo.com
Jin
Hei-Ying
HY
Cheng
Hui-Yu
HY
Yan
Yu-Di
YD
Meng
Rong-Gui
RG
Yu
De-Hong
DH
D048868:Adaptor Proteins, Signal Transducing; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002352:Carrier Proteins; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D005192:Family Health; D016368:Frameshift Mutation; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D011518:Proto-Oncogene Proteins
D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D004268:DNA-Binding Proteins; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D011506:Proteins; D011518:Proto-Oncogene Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein