RPS20 Gene Mutations




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Additional Information

RPS20 gene

Associated Syndrome Name: RPS20-associated Cancer Risk

RPS20 Summary Cancer Risk Table

Cancer Genetic Cancer Risk
ColorectalElevated Risk

RPS20 gene Overview

RPS20-associated Cancer Risk 1, 2
  • A mutation in RPS20 has been found in one large Finnish family including many individuals who have had colorectal cancer. Additional RPS20 mutations have been found in a small number of individuals suspected of having an inherited risk for colorectal cancer.
  • Based on the information from the Finnish family, and the small number of individual cases, there is some evidence that individuals with RPS20 mutations have a significantly increased risk for colorectal cancer. The exact size of this risk is unknown, and it is not certain that this risk applies to all RPS20 mutations.
  • There are currently no guidelines for the medical management of individuals with mutations in RPS20. Since information about the cancer risks associated with RPS20 mutations is relatively new, and there is uncertainty about the best ways to reduce these risks, it may be appropriate to interpret these results in consultation with cancer genetics professionals who have expertise in this emerging area of knowledge.

RPS20 gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population
ColorectalTo age 801, 2, 3Elevated risk3.0%

RPS20 Cancer Risk Management Table

The overview of medical management options provided is a summary of professional society guidelines. The most recent version of each guideline should be consulted for more detailed and up-to-date information before developing a treatment plan for a particular patient.

This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient’s personal medical history, surgeries and other treatments.

Cancer Type Procedure Age to Begin Frequency
(Unless otherwise indicated by findings)
ColorectalCurrently there are no medical management guidelines for colorectal cancer risk in mutation carriers. However, the possibility of an increased risk for colorectal cancer may warrant consideration of individualized risk-reduction strategies, such as the modification of standard population screening recommendations by starting screening at younger ages and/or performing screenings at greater frequency.4NANA

Information for Family Members

The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the RPS20 gene.

A major potential benefit of myRisk genetic testing for hereditary cancer risk is the opportunity to prevent cancer in relatives of patients in whom clinically significant mutations are identified. Healthcare providers have an important role in making sure that patients with clinically significant mutations are informed about the risks to relatives, and ways in which genetic testing can guide lifesaving interventions.


  1. Broderick P, et al. Validation of Recently Proposed Colorectal Cancer susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review. Gastroenterology. 2017 152:75-77. PMID: 27713038.
  2. Nieminen TT, et al. Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. Gastroenterology. 2014 147:595-598. PMID: 24941021.
  3. Fast Stats: An interactive tool for access to SEER cancer statistics. Surveillance Research Program, National Cancer Institute. https://seer.cancer.gov/faststats. (Accessed on 1-2-2017)
  4. Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Colorectal Cancer Screening. V 2.2019. Aug 2. Available at http://www.nccn.org.
Last Updated on 10-Dec-2020