Juvenile Polyposis Syndrome (JPS)

BMPR1A ASSOCIATED CANCER RISKS

 BREASTOVARIANGASTRICCOLORECTALPANCREATICMELANOMAPROSTATEENDOMETRIALOTHER

Additional Information

Associated Syndrome Name: Juvenile Polyposis Syndrome (JPS)

BMPR1A Summary Cancer Risk Table

CANCER GENETIC CANCER RISK
Colorectal High Risk
Gastric High Risk
Pancreatic Elevated Risk
Other Elevated 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 *
Colorectal To age 422 20%-25% <0.2%
To age 802, 3 40%-50% 3.4%
Gastric To age 803 Up to 21% 0.6%
Pancreatic To age 802, 3 Rare, but elevated risk 1%
Small Bowel To age 802, 3 Rare, but elevated risk 0.2%

BMPR1A Cancer Risk Management Table

The overview of medical management options provided is a summary of professional society guidelines as of the last Myriad update shown on this page. The specific reference provided (e.g., NCCN guidelines) should be consulted for more details 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
Colorectal Colonoscopy3 15 years Every 2 to 3 years
Monitor for rectal bleeding and/or anemia.1 15 years, or earlier if symptoms are present Ongoing
Gastric Upper endoscopy3, 5 15 years Every 2 to 3 years
Pancreatic Currently there are no specific medical management guidelines for pancreatic cancer risk in mutation carriers. NA NA
Small Bowel Currently there are no specific medical management guidelines for small bowel cancer risk in mutation carriers.3 NA NA

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.

References

  1. Larsen Haidle J, Howe JR. Juvenile Polyposis Syndrome. 2015 Dec 3. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Available from http://www.ncbi.nlm.nih.gov/books/NBK1469/ PMID: 20301642.
  2. Howe JR, et al. The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol. 1998 5:751-6. PMID: 9869523.
  3. Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Genetic/Familial High-Risk Assessment: Colorectal. V 2.2016. September 26. Available at http://www.nccn.org.
  4. Surveillance Research Program, National Cancer Institute SEER*Stat software (seer.cancer.gov/seerstat) V 8.0.1, Nov 19, 2012.
  5. Ajani JA, et al. NCCN Clinical Practice Guidelines in Oncology®: Gastric Cancer. V 3.2016. August 3. Available at http://www.nccn.org.
Last Updated on 01-Jun-2017