Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome

Defective mismatch repair leads to increased mutation rates, and germline loss-of-function variants in the repair component MLH1 cause the hereditary cancer predisposition disorder known as Lynch syndrome. Early diagnosis is important, but complicated by many variants being of unknown significance....

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Detalhes bibliográficos
Publicado no:eLife
Main Authors: Abildgaard, Amanda B, Stein, Amelie, Nielsen, Sofie V, Schultz-Knudsen, Katrine, Papaleo, Elena, Shrikhande, Amruta, Hoffmann, Eva R, Bernstein, Inge, Gerdes, Anne-Marie, Takahashi, Masanobu, Ishioka, Chikashi, Lindorff-Larsen, Kresten, Hartmann-Petersen, Rasmus
Formato: Artigo
Idioma:Inglês
Publicado em: eLife Sciences Publications, Ltd 2019
Assuntos:
Cancer Biology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6837844/
https://ncbi.nlm.nih.gov/pubmed/31697235
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.49138
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