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

Jennifer Herrera-Mullar1, Cassidy Carraway1, Ashley P L Marsh1

  • 1Ambry Genetics Corporation, Aliso Viejo, CA.

JCO Precision Oncology
|August 27, 2025
PubMed
Summary

RPS20 gene variants increase colorectal cancer risk, particularly early-onset, signet ring cell types. Management recommendations for RPS20 heterozygotes should align with Lynch syndrome guidelines.

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