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Article

Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome.

Scientific reports - 21 Feb 2024

Dalene Skarping Karin, Arning Larissa, Petersén Åsa, Nguyen Huu Phuc, Gebre-Medhin Samuel

Abstract excerpt

DNA mismatch repair (MMR) is thought to contribute to the onset and progression of Huntington disease (HD) by promoting somatic expansion of the pathogenic CAG nucleotide repeat in the huntingtin gene (HTT). Here we have studied constitutional HTT CAG repeat size in two cohorts of individuals with Lynch syndrome (LS) carrying heterozygous loss-of-function variants in the MMR genes MLH1 (n = 12/60; Lund...

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Identifiers

PMID: 38383663
DOI: 10.1038/s41598-024-54277-5
PMCID: PMC10881568

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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