BMPR1A Gene Mutations
Juvenile Polyposis Syndrome (JPS)
What does it mean to have a diagnosis of Juvenile Polyposis Syndrome?
Juvenile Polyposis Syndrome (JPS) is caused by mutations in one of two genes: BMPR1A and SMAD4. People with JPS have growths in their digestive system that can lead to cancer. These growths are called ‚Äújuvenile polyps‚ÄĚ and can develop in adults as well as in children. The most common locations for juvenile polyps are the colon, rectum, stomach and small intestine. The juvenile polyps can cause problems by bleeding and/or blocking the intestines.
People with JPS have an increased risk for cancers of the colon, rectum, and stomach. There are also slightly elevated risks for small bowel and pancreatic cancers.
What can be done to protect people with JPS from cancer?
The National Comprehensive Cancer Network (NCCN) provides recommendations for lowering the risk of cancer and other health problems in men and women with JPS. These recommendations include starting screening of the stomach and intestines at young ages and having the screenings frequently. For example, colonoscopies to check for juvenile polyps in the colon should begin at age 15 or younger and should be done every few years. People with JPS should also be checked for anemia, which could be caused by bleeding from juvenile polyps.
JPS is a relatively rare condition, so it is recommended that people with JPS be cared for by healthcare professionals with experience in treating this condition.
Associated Syndrome Name: Juvenile Polyposis Syndrome (JPS)
BMPR1A Summary Cancer Risk Table
|Cancer||Genetic Cancer Risk|
BMPR1A gene Overview
- 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 4|
|Colorectal||To age 422||20%-25%||<0.2%|
|To age 802, 3||40%-50%||3.0%|
|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, 6, 7||12 to 15 years, or earlier if symptoms are present||Every 2 to 3 years|
|Monitor for rectal bleeding and/or anemia.1, 6||15 years, or earlier if symptoms are present||Annually|
|Colorectal surgical evaluation and counseling.3, 6, 7||Based on cancer diagnosis and/or polyp number, size and histology||NA|
|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||Capsule endoscopy6||15 years, or earlier if symptoms are present||Individualized|
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.
- 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.
- Howe JR, et al. The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol. 1998 5:751-6. PMID: 9869523.
- Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Genetic/Familial High-Risk Assessment: Colorectal. V 3.2017. October 10. Available at http://www.nccn.org.
- 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)
- Ajani JA, et al. NCCN Clinical Practice Guidelines in Oncology®: Gastric Cancer. V 3.2017. August 22. Available at http://www.nccn.org.
- 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.
- 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.