Article
DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.
Human molecular genetics - 1 Jun 1996
Nyström-Lahti M, Wu Y, Moisio A L, Hofstra R M, Osinga J, Mecklin J P, Järvinen H J, Leisti J, Buys C H, de la Chapelle A, Peltomäki P
Abstract excerpt
The DNA mismatch repair genes MSH2 and MLH1 have been shown to account for a major share of hereditary non-polyposis colorectal cancer (HNPCC). We searched for germline mutations in these genes in 35 HNPCC kindreds fulfilling the Amsterdam diagnostic criteria and in a further 20 kindreds with an...
Topics
- Adaptor Proteins, Signal Transducing
- Adult
- Colorectal Neoplasms, Hereditary Nonpolyposis
- DNA Mutational Analysis
- DNA Repair
- DNA-Binding Proteins
- Electrophoresis, Gel, Two-Dimensional
- Fungal Proteins
- Genetic Testing
- Genetic Variation
- Humans
- MutL Protein Homolog 1
- MutS Homolog 2 Protein