Association between microsatellite instability and mutation of DNA mismatch repair genes in hereditary nonpolyposis colorectal cancer in Taiwain
| Autor: | Shin-Ning Kuo, 郭欣寧 |
|---|---|
| Rok vydání: | 2005 |
| Druh dokumentu: | 學位論文 ; thesis |
| Popis: | 93 Introduction: Hereditary non-polyposis colorectal cancer (HNPCC, Lynch syndrome) is a dominantly inherited syndrome accounting for 1-13% of colorectal cancers and is caused by a constitutional defect in DNA mismatch repair (MMR) genes, most commonly affecting genes hMLH1, hMSH2, and hMSH6. The mutation rate of DNA mismatch repair genes is different from many reports of HNPCC families (22%~86%). According to the mutation rate DNA mismatch repair genes in HNPCC patients in Taiwan is lower than that of western countries’ report. It implied that still other DNA mismatch repair genes may be involved in HNPCC patients in Taiwan. To study HNPCC patients in Taiwan, the first step is to figure out the association between protein expression and DNA mismatch repair genes. Second, to figure out the association between microsatellite instability (MSI) and DNA mismatch repair genes. Third, to analyze the association between protein expression and microsatellite instability. Bethesda marker is used to test the MSI analysis and immunohistochemistry (IHC) is used to test the protein expression. Result：The hMLH1 and hMSH2 gene mutation with negative protein expression are 76.67% and 42.86%. The hMLH1 or hMSH2 gene mutation with tumor tissue with high microsatellite instability is 70.83%. The hMLH1 and hMSH2 protein negative with high microsatellite instability 62.5% and 58.33%. The correctly result of the combination of the MSI and IHC to detect hMLH1, hMSH2 mutation rate is 89.5% and 100%. Conclusion: The association between microsatellite instability and mutation of DNA mismatch repair genes (hMLH1, hMSH2) is lower. It is suggestion that it is increasing the amount of the using microsatellite marker or using other mono-nucleotide replace the di-nucleotide microsatellite marker. |
| Databáze: | Networked Digital Library of Theses & Dissertations |
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