Clinical presentation correlates with the type of mismatch repair gene involved in hereditary nonpolyposis colon cancer
โ Scribed by Prathap Bandipalliam; Judy Garber; Sapna Syngal; Richard D. Kolodner
- Book ID
- 119757616
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 103 KB
- Volume
- 126
- Category
- Article
- ISSN
- 0016-5085
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๐ SIMILAR VOLUMES
Hereditary nonpolyposis colorectal cancer (HNPCC) is a common autosomal dominant disease caused by germline mutations in DNA mismatch repair genes. The mutational spectrum in these genes appears to be diverse, in both the distribution and the nature of the mutations. However, most described mutation
Fourteen Italian families affected with hereditary nonpolyposis colorectal cancer (HNPCC) were screened for germline mutations at three DNA mismatch repair (MMR) genes, MSH2, MLH1, and GTBP, by using a combination of different methods that included an in vitro synthesized protein assay, single-stran