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Article

An accurate cellular assay to determine pathogenicity of coding and noncoding variants in Lynch syndrome genes.

Proceedings of the National Academy of Sciences of the United States of America - 20 Jan 2026

Glykofridis Iris E, Dekker Marleen, Stoepker Chantal, van Ravesteyn Thomas W, Tiersma Yvonne, van der Ham Cédric G, de Bruijn Beaunelle, Ebrahim Salma, de Menezes Renée X, Kasteleijn Esmee, Verheijen Frans, van Ham Tjakko J, Te Riele Hein

Abstract excerpt

Lynch syndrome (LS) is a genetic predisposition to mainly colorectal and endometrial cancer due to heterozygous disruptive germline mutations in the DNA mismatch-repair (MMR) genes MSH2, MSH6, MLH1, or PMS2. Beyond clearly pathogenic mutations, germline sequencing often reveals variants of uncertain significance (VUS), predominantly single base-pair alterations in coding or noncoding regions. These uncertain...

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Source

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Identifiers

PMID: 41543911
DOI: 10.1073/pnas.2517801123
PMCID: PMC12818420

Genes

MLH1
MSH2
MSH6
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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An accurate cellular assay to determine pathogenicity of coding and noncoding variants in Lynch syndrome genes.PMID 41543911Read ↗

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Saturation-scale functional evidence supports clinical variant interpretation in Lynch SyndromeSemantic proximity Read ↗

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