Analysis of missense variants in RPS20 and an association with colorectal cancer predisposition

Presenting Author: Jennifer Herrera-Mullar, MGC, LCGC, DMA Principal Clinical Scientist

Take home points: 

1. Though truncating variants in RPS20 leading to loss-of-function are associated with a significant risk of colorectal cancer, the clinical significance of missense variants is less clear.
2. We looked at over 1000 missense variants reported in RPS20 and their association with colorectal cancer.
3. Pooled analysis of RPS20 missense variants did not identify a significantly higher prevalence of colorectal cancer compared to a large negative multigene panel testing cohort.
4. Combined computational, structural, and clinical data may be utilized to identify rare pathogenic missense variants.

• Speakers: Jennifer Herrera-Mullar; Cassidy Carraway; Ashley PL Marsh; Zahra Heidari; Rachel Jones; Felicia Hernandez; Emily Kudalkar; Marcy E. Richardson
• Conference: CGA-IGC 2025
• Date: Thursday, Oct 09, 2025 1:30pm - 3:00pm