Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer

Lynch syndrome is a heritable condition caused by a heterozygous germline inactivating mutation of the DNA mismatch repair (MMR) genes, most commonly the MLH1 gene. However, one third of the identified alterations are missense variants, for which the clinical significance is unclear in many cases. W...

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Detalles Bibliográficos
Autores principales: Mahdouani, Marwa, Ben Ahmed, Slim, Hmila, Fahmi, Rais, Henda, Ben Sghaier, Rihab, Saad, Hanene, Ben Said, Mariem, Masmoudi, Saber, Hmida, Dorra, Brieger, Angela, Zeuzem, Stefan, Saad, Ali, Gribaa, Moez, Plotz, Guido
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9714755/
https://www.ncbi.nlm.nih.gov/pubmed/36454741
http://dx.doi.org/10.1371/journal.pone.0278283

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9714755/
https://www.ncbi.nlm.nih.gov/pubmed/36454741
http://dx.doi.org/10.1371/journal.pone.0278283

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