GREM1 Gene Mutations

Hereditary Mixed Polyposis Syndrome (HMPS)




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Additional Information

GREM1 gene

Associated Syndrome Name: Hereditary Mixed Polyposis Syndrome (HMPS)

GREM1 Summary Cancer Risk Table

Cancer Genetic Cancer Risk
ColorectalElevated Risk

GREM1 gene Overview

Hereditary Mixed Polyposis Syndrome (HMPS) 1, 2, 3
  • Mutations in GREM1 have been found in some individuals with Hereditary Mixed Polyposis Syndrome (HMPS), a rare condition which has to date only been identified in a small number of families.
  • Individuals with HMPS develop colorectal polyps of varied types including adenomatous polyps, hamartomatous polyps, hyperplastic polyps, and polyps of mixed histology. These polyps may develop in large numbers, and in individuals at young ages, i.e., in their teens. The clinical features of HMPS are not yet well defined, due to the rarity of the condition.
  • Individuals with HMPS are believed to have a significantly increased risk for colorectal cancer.
  • Although there is an increased risk for colorectal cancer in individuals with HMPS due to mutations in GREM1, it may be possible to reduce this risk with appropriate medical management. Guidelines for the medical management of patients with HMPS have been developed by the National Comprehensive Cancer Network (NCCN). These are listed below. These guidelines will evolve as we learn more about HMPS, and it is recommended that patients with a GREM1 mutation and a diagnosis of HMPS be managed by a multidisciplinary team with expertise in medical genetics and the care of patients with hereditary cancer syndromes.

GREM1 gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population
ColorectalTo age 802, 3, 4Elevated risk3.0%

GREM1 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)
ColorectalColonoscopy225 to 30 yearsEvery 2 to 3 years
Colorectal surgical evaluation and counseling.2Based on cancer diagnosis and/or polyp number, size and histologyNA

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 GREM1 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. Jaeger E, et al. Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat Genet. 2012 44:699-703. PMID: 22561515.
  2. Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Genetic/Familial High-Risk Assessment: Colorectal. V 3.2019. Dec 13. Available at
  3. Rozen P, et al. A prospective study of the clinical, genetic, screening, and pathologic features of a family with hereditary mixed polyposis syndrome. Am J Gastroenterol. 2003 98:2317-20. PMID: 14572586.
  4. Fast Stats: An interactive tool for access to SEER cancer statistics. Surveillance Research Program, National Cancer Institute. (Accessed on 1-2-2017)
Last Updated on 10-Dec-2020