MSH3: a confirmed predisposing gene for adenomatous polyposis.

doi:10.1136/jmg-2023-109341

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Article

MSH3: a confirmed predisposing gene for adenomatous polyposis.

Journal of medical genetics - 27 Nov 2023

Villy Marie-Charlotte, Masliah-Planchon Julien, Schnitzler Anne, Delhomelle Hélène, Buecher Bruno, Filser Mathilde, Merchadou Kevin, Golmard Lisa, Melaabi Samia, Vacher Sophie, Blanluet Maud, Suybeng Voreak, Corsini Carole, Dhooge Marion, Hamzaoui Nadim, Farelly Solenne, Ait Omar Amal, Benamouzig Robert, Caumette Vincent, Bahuau Michel, Cucherousset Joël, Allory Yves, Stoppa-Lyonnet Dominique, Bieche Ivan, Colas Chrystelle

Abstract excerpt

BACKGROUND: The MSH3 gene is part of the DNA mismatch repair system, but has never been shown to be involved in Lynch syndrome. A first report of four patients from two families, bearing biallelic MSH3 germline variants, with a phenotype of attenuated colorectal adenomatous polyposis raised the question of its involvement in hereditary cancer predisposition. The patients' tumours exhibited elevated microsatellite...

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Identifiers

PMID: 37402566
DOI: 10.1136/jmg-2023-109341

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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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