Article
Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.
Journal of medical genetics - 1 Sept 1996
Froggatt N J, Brassett C, Koch D J, Evans D G, Hodgson S V, Ponder B A, Maher E R
Abstract excerpt
Germline mutations in four human mismatch repair genes (MSH2, MLH1, PMS1, and PMS2) have been reported to cause hereditary non-polyposis colon cancer syndrome (HNPCC). The identification of germline mutations in HNPCC kindreds allows precise diagnosis and accurate predictive testing. To investiga...
Topics
- Adaptor Proteins, Signal Transducing
- Colorectal Neoplasms, Hereditary Nonpolyposis
- DNA Repair
- DNA-Binding Proteins
- Fungal Proteins
- Genetic Linkage
- Genotype
- Humans
- Microsatellite Repeats
- MutL Protein Homolog 1
- MutS Homolog 2 Protein
- Mutagenesis
- Phenotype
- RNA, Messenger
- Saccharomyces cerevisiae Proteins
- Tumor Cells, Cultured