Article
Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo.
Human mutation - 1 Oct 2010
Mastrocola Adam S, Heinen Christopher D
Abstract excerpt
The DNA mismatch repair (MMR) pathway is essential in maintaining genomic stability through its role in DNA repair and the checkpoint response. Loss of DNA MMR underlies the hereditary cancer disease Lynch Syndrome (LS). Germline mutations in MSH2 account for approximately 40% of LS patients and of these, 18% are missense variants. One important clinical challenge has been discriminating between missense variants...
Topics
- Cell Line, Tumor
- Colorectal Neoplasms, Hereditary Nonpolyposis
- DNA Mismatch Repair
- DNA Repair
- Genes, cdc
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Humans
- Models, Molecular
- MutS Homolog 2 Protein
- Mutation, Missense
- Protein Subunits