Novel germline and somatic mutations of the MSH2 gene in hereditary non-polyposis colorectal cancer
β Scribed by D-C Ding; R-L Huang; C-H Chen; C-F Chao; T-Y Chu
- Book ID
- 110888345
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 160 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0009-9163
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Hereditary non-polyposis colorectal cancer (HNPCC), the most common hereditary colon cancer syndrome, is a dominant disorder caused by germline defects in mismatch repair (MMR) genes. Identification of MMR gene mutations can have direct clinical implications in counseling and management of HNPCC fam
Germline mutations in the MLH1 and MSH2 genes, account for the majority of HNPCC families. We have screened such families from Spain by using DGGE analysis and subsequent direct sequencing techniques. In eight families we identified six novel MLH1 and two novel MSH2 mutations comprising one frame sh