Presenting Author: Jennifer Herrera-Mullar, MGC, LCGC, DMA Principal Clinical Scientist
Take home points:
- 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.
- We looked at over 1000 missense variants reported in RPS20 and their association with colorectal cancer.
- 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.
- 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