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

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

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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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Bibliographic Details
Main Authors: Marwa Mahdouani, Slim Ben Ahmed, Fahmi Hmila, Henda Rais, Rihab Ben Sghaier, Hanene Saad, Mariem Ben Said, Saber Masmoudi, Dorra Hmida, Angela Brieger, Stefan Zeuzem, Ali Saad, Moez Gribaa, Guido Plotz
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2022-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9714755/?tool=EBI

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9714755/?tool=EBI

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