Comprehensive functional assessment of MLH1 variants of unknown significance

Lynch syndrome is associated with germline mutations in DNA mismatch repair (MMR) genes. Up to 30% of DNA changes found are variants of unknown significance (VUS). Our aim was to assess the pathogenicity of eight MLH1 VUS identified in patients suspected of Lynch syndrome. All of them are novel or n...

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Veröffentlicht in:	Human mutation 2012-11, Vol.33 (11), p.1576-1588
Hauptverfasser:	Borràs, Ester, Pineda, Marta, Brieger, Angela, Hinrichsen, Inga, Gómez, Carolina, Navarro, Matilde, Balmaña, Judit, Ramón y Cajal, Teresa, Torres, Asunción, Brunet, Joan, Blanco, Ignacio, Plotz, Guido, Lázaro, Conxi, Capellá, Gabriel
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing - chemistry Adaptor Proteins, Signal Transducing - genetics Adaptor Proteins, Signal Transducing - metabolism Adult Aged Amino Acid Sequence Base Sequence Case-Control Studies Colorectal Neoplasms, Hereditary Nonpolyposis - genetics Colorectal Neoplasms, Hereditary Nonpolyposis - metabolism Computational Biology DNA Mismatch Repair - genetics DNA Mismatch Repair - physiology DNA Mutational Analysis Female functional characterization Gene Frequency Genetic Variation HEK293 Cells Humans Lynch syndrome Male Middle Aged MLH1 Models, Anatomic Molecular Sequence Data Mutant Proteins - chemistry Mutant Proteins - genetics Mutant Proteins - metabolism Mutation, Missense MutL Protein Homolog 1 Nuclear Proteins - chemistry Nuclear Proteins - genetics Nuclear Proteins - metabolism Pedigree Protein Multimerization Protein Structure, Tertiary Recombinant Proteins - chemistry Recombinant Proteins - genetics Recombinant Proteins - metabolism RNA Processing, Post-Transcriptional RNA, Messenger - genetics RNA, Messenger - metabolism variants of unknown significance
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