BMPR1A Gene Mutations

Juvenile Polyposis Syndrome (JPS)




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Additional Information

BMPR1A gene

Associated Syndrome Name: Juvenile Polyposis Syndrome (JPS)

BMPR1A Summary Cancer Risk Table

Cancer Genetic Cancer Risk
ColorectalHigh Risk
GastricHigh Risk
PancreaticElevated Risk
OtherElevated Risk

BMPR1A gene Overview

Juvenile Polyposis Syndrome (JPS) 1, 2, 3
  • Individuals with BMPR1A mutations have Juvenile Polyposis Syndrome (JPS).
  • Patients with JPS have a high risk for cancer as a result of hamartomatous polyps in the gastrointestinal system, particularly in the colon, rectum and stomach. The presence of these polyps is associated with a high risk for colorectal cancer, and can cause bleeding leading to anemia.
  • Patients with JPS also have an elevated risk for small bowel and pancreatic cancer.
  • Although there are high risks for cancer in patients with JPS, these risks can be greatly reduced with appropriate medical management. Guidelines from the National Comprehensive Cancer Network (NCCN) are listed below. It is recommended that patients with BMPR1A mutations and a diagnosis of JPS be managed by a multidisciplinary team with expertise in medical genetics and the care of patients with hereditary gastrointestinal cancer syndromes.

BMPR1A gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population
ColorectalTo age 422, 420%-25%<0.2%
To age 801, 2, 440%-50%3.0%
GastricTo age 801, 4Up to 21%0.6%
PancreaticTo age 801, 2, 4Rare, but elevated risk1%
Small BowelTo age 801, 2, 4Rare, but elevated risk0.2%

BMPR1A 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)
ColorectalColonoscopy1, 5, 612 to 15 years, or earlier if symptoms are presentEvery 2 to 3 years
Monitor for rectal bleeding and/or anemia.3, 515 years, or earlier if symptoms are presentAnnually
Colorectal surgical evaluation and counseling.1, 5, 6Based on cancer diagnosis and/or polyp number, size and histologyNA
GastricUpper endoscopy1, 715 yearsEvery 2 to 3 years
PancreaticCurrently there are no specific medical management guidelines for pancreatic cancer risk in mutation carriers.NANA
Small BowelCapsule endoscopy515 years, or earlier if symptoms are presentIndividualized

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 BMPR1A 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.

Since BMPR1A mutations carry a risk for complications in children and some screenings are recommended to begin by age 15 or younger, consideration should be given to the possibility of mutation testing in childhood.


  1. Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Genetic/Familial High-Risk Assessment: Colorectal. V 3.2019. Dec 13. Available at
  2. Howe JR, et al. The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol. 1998 5:751-6. PMID: 9869523.
  3. Larsen Haidle J, Howe JR. Juvenile Polyposis Syndrome. 2017 Mar 9. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Available from PMID: 20301642.
  4. Fast Stats: An interactive tool for access to SEER cancer statistics. Surveillance Research Program, National Cancer Institute. (Accessed on 1-2-2017)
  5. Achatz MI, et al. Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood. Clin Cancer Res. 2017 23:e107-e114. PMID: 28674119.
  6. Syngal S, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 110:223-62. PMID: 25645574.
  7. Ajani JA, et al. NCCN Clinical Practice Guidelines in Oncology®: Gastric Cancer. V 4.2019. Dec 20. Available at
Last Updated on 10-Dec-2020