Association of <i>RPS20</i> Loss-of-Function Variants With Colorectal Cancer Risk in a Cohort of Over 950,000 Individuals
<i>RPS20</i> is associated with early-onset, pMMR CRC enriched for SRC pathology. Comparison of prevalence showed a statistically significant two-fold increase in the odds of developing CRC compared with an <i>MLH1</i> LS cohort. These data confirm the gene-disease relationship between <i>RPS20</i> and CRC and support clinical management guidelines similar to <i>MLH1</i>-related LS.
Authors
- Ashley P.L. Marsh (ORCID: https://orcid.org/0000-0001-6049-6931)
- Emily Kudalkar
- Marcy E. Richardson (ORCID: https://orcid.org/0000-0002-4626-4920)
- Cassidy Carraway
- Jennifer Herrera-Mullar (ORCID: https://orcid.org/0009-0001-7861-178X)
- Felicia Hernandez
Institutions
- Ambry Genetics (United States) (US)
Publication Details
- Journal
- JCO Precision Oncology
- Published
- 2025-08-27
- DOI
- https://doi.org/10.1200/po-25-00214
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00