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

1 Dec 2022

Abstract excerpt

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. We have identified three MLH1 missense alterations (p.(Glu736Lys), p.(Pro640Thr) and p.(Leu73Pro)) in six individuals...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36454741
DOI: 10.1371/journal.pone.0278283

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