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Article

Association of RPS20 Loss-of-Function Variants With Colorectal Cancer Risk in a Cohort of Over 950,000 Individuals

27 Aug 2025

Abstract excerpt

PURPOSE RPS20 is a proposed colorectal cancer (CRC) predisposition gene, with only four families with putative loss-of-function (pLoF) variants published. The prevalence, phenotypic spectrum, and clinical management recommendations for RPS20 heterozygotes remain unknown. METHODS Retrospective review of approximately 950,000 individuals undergoing multigene panel testing (MGPT) for cancer predisposition identified...

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PMID: 40865030
DOI: 10.1200/po-25-00214

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