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Article

In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk.

HGG advances - 18 Jul 2024

Matoy Evanjalina J, Plowman Jocelyn N, Watson Cynthia J, Belshan Michael A, Blue Elizabeth E, Huff Chad D, Stessman Holly A F

Abstract excerpt

Lynch syndrome (LS) is the most common hereditary cancer syndrome. Heterozygous loss-of-function variants in PMS2 are linked to LS. While these variants are not directly cancer causing, reduced PMS2 function results in the accumulation of somatic variants and increased cancer risk over time due to DNA mismatch repair dysfunction. It is reasonable that other types of genetic variation that impact the expression of...

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Share to Colorectal Neoplasms, Hereditary Nonpolyposis
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Source

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Identifiers

PMID: 38654521
DOI: 10.1016/j.xhgg.2024.100298
PMCID: PMC11087717

Genes

PMS2

Variants

Provenance

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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