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Article

New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients.

Familial cancer - 7 Feb 2025

Amiot Julie, Gubeljak Lara, Fontaine Agathe, Smith Denis, Mortemousque Isabelle, Parodi Nathalie, Mauillon Jacques, Kasper Edwige, Baert-Desurmont Stéphanie, Tinat Julie, Houdayer Claude

Abstract excerpt

Germline pathogenic variants of the RPS20 (ribosomal protein S20) gene are suspected to be involved in the predisposition to familial colorectal cancer (CRC) with no DNA mismatch repair deficiency. RPS20 pathogenic variants are very rare with only five reported cases in the literature. We report in this work the retrospective germline analysis of RPS20 for 1035 consecutive patients with a personal and/or familial...

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Identifiers

PMID: 39920491
DOI: 10.1007/s10689-025-00446-y

Genes

RPS20

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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