The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations
Wanat JJ, Singh N, Alani E. The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. Human Molecular Genetics 2007, 16: 445-452. PMID: 17210669, DOI: 10.1093/hmg/ddl479.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAllelesColorectal Neoplasms, Hereditary NonpolyposisFungal ProteinsGene FrequencyHumansMutation, MissenseMutL Protein Homolog 1Organisms, Genetically ModifiedPhenotypeSaccharomyces cerevisiaeSaccharomyces cerevisiae ProteinsConceptsHereditary non-polyposis colorectal cancerNon-polyposis colorectal cancerMMR defectsMismatch repair genes MLH1Functional assaysDNA mismatch repair genes MLH1Genetic backgroundColorectal cancerClinical dataMMR proficiencyMLH1 alleleGermline mutationsGenes MLH1Previous functional assaysMissense variantsMLH1Potential pathogenicityYeast Mlh1One-thirdMissense mutationsHuman mutationsCertain allelesLarge percentageAllelesPathogenicity