Hereditary nonpolyposis colorectal cancer (HNPCC) is frequently associated with inherited mutation in one of four DNA mismatch repair genes. Somatic mutations in the same genes are also found in a subset of sporadic colorectal cancers. A defect in DNA mismatch repair results in an RER (replication e
Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer
✍ Scribed by Irene Marcos; Salud Borrego; Miguel Urioste; Carmen García-Vallés; Guillermo Antiñolo
- Book ID
- 116683835
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 112 KB
- Volume
- 148
- Category
- Article
- ISSN
- 1097-6833
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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
DNA mismatch repair is of considerable scientific and medical importance because of its essential role in maintaining genomic integrity, and its association with hereditary non-polyposis colon cancer (HNPCC). Germline mutations in five mismatch repair genes (MLH1, MSH2, PMS1, PMS2, and MSH6) have be