Article
Founding mutations and Alu-mediated recombination in hereditary colon cancer.
Nature medicine - 1 Nov 1995
Nyström-Lahti M, Kristo P, Nicolaides N C, Chang S Y, Aaltonen L A, Moisio A L, Järvinen H J, Mecklin J P, Kinzler K W, Vogelstein B
Abstract excerpt
By screening members of Finnish families displaying hereditary nonpolyposis colorectal cancer (HNPCC) for predisposing germline mutations in MSH2 and MLH1, we show that two mutations in MLH1 together account for 63% (19/30) of kindreds meeting international diagnostic criteria. Mutation 1, origin...
Topics
- Base Sequence
- Cloning, Molecular
- Colorectal Neoplasms, Hereditary Nonpolyposis
- Disease Susceptibility
- Exons
- Finland
- Founder Effect
- Genes, Dominant
- Humans
- Introns
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Recombination, Genetic