Session # P098

Characterization of RPS20-related colorectal cancer predisposition: A case series from a multigene panel testing cohort

Presenting Author: Jeni Herrera-Mullar, MGC, CGC, DMA

Take home points: 

1. 1. We present the largest series of individuals with RPS20 putative loss of function variants, pLOF (7 times larger than all published cases combined).
2. Retrospective review shows that individuals with RPS20 pLOF have a prevalence of nearly 80% colorectal cancer (CRC) in our cohort. Nearly 19% of these individuals have multiple primary CRC diagnoses.
3. Comparison to a wildtype (WT) negative control group (multigene panel-negative probands) revealed an odds ratio of 41.9-fold for CRC compared to WT. We also compared RPS20 to MLH1, which revealed an odds ratio for CRC 2-fold higher than this high penetrance CRC gene. Our data shows that RPS20 is a bona fide high penetrance gene for CRC predisposition, with multiple individuals diagnosed with multiple primary CRCs.

• Authors: Ashley P.L. Marsh; Jennifer Herrera-Mullar; Cassidy Carraway; Cynthia Martinez; Felicia Hernandez; Emily Kudalkar; Marcy E. Richardson
• Conference: ACMG 2025
• Date: Friday, Mar 21, 2025 10:30am - 11:30am