Population carrier frequency of hMSH2 and hMLH1 mutations
β Scribed by Dunlop, M G; Farrington, S M; Nicholl, I; Aaltonen, L; Petersen, G; Porteous, M; Carothers, A
- Book ID
- 111724411
- Publisher
- Nature Publishing Group
- Year
- 2000
- Tongue
- English
- Weight
- 43 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0007-0920
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Hereditary non-polyposis colon cancer (HNPCC) is a common hereditary disease characterized by a predisposition to an early onset of colorectal cancer. The majority of the HNPCC families carry germline mutations of either hMSH2 or hMLH1 genes, whereas germline mutations of hPMS1 and hPMS2 genes have
We have screened 17 Southern Sweden individuals/families with suspected hereditary non-polyposis colorectal cancer (HNPCC) for mutations in the DNA-mismatch repair genes hMLH1, hMSH2 and hMSH6 using denaturing gradient gel electrophoresis, protein truncation test and direct DNA sequencing. The famil