Functional characterization of MLH1 missense variants identified in lynch syndrome patients

Germline mutations in the human DNA mismatch repair (MMR) genes MSH2 and MLH1 are associated with the inherited cancer disorder Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer or HNPCC. A proportion of MSH2 and MLH1 mutations found in suspected LS patients give rise to s...

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Veröffentlicht in:	Human mutation 2012-12, Vol.33 (12), p.1647-1655
Hauptverfasser:	Andersen, Sofie Dabros, Liberti, Sascha Emilie, Lützen, Anne, Drost, Mark, Bernstein, Inge, Nilbert, Mef, Dominguez, Mev, Nyström, Minna, Hansen, Thomas Van Overeem, Christoffersen, Janus Wiese, Jäger, Anne Charlotte, de Wind, Niels, Nielsen, Finn Cilius, Tørring, Pernille M., Rasmussen, Lene Juel
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing - chemistry Adaptor Proteins, Signal Transducing - genetics Adaptor Proteins, Signal Transducing - metabolism Adenosine Triphosphatases - chemistry Animals Colorectal Neoplasms, Hereditary Nonpolyposis - genetics DNA Repair Enzymes - chemistry DNA-Binding Proteins - chemistry Escherichia coli Proteins - chemistry functional assay HeLa Cells Humans Lynch syndrome Mice mismatch repair Mismatch Repair Endonuclease PMS2 MLH1 Models, Molecular Mutagenesis, Site-Directed Mutation, Missense MutL Protein Homolog 1 MutL Proteins NIH 3T3 Cells Nuclear Proteins - chemistry Nuclear Proteins - genetics Nuclear Proteins - metabolism Polymorphism, Single Nucleotide Protein Binding Protein Structure, Tertiary Protein Transport Structural Homology, Protein
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