Information for People with Inherited BMPR1A Mutations


PUBLISHED: 9th July 2025

The BMPR1A gene is a tumor suppressor. It transmits signals from the cell surface to the nucleus. The signals keep cells from growing and dividing too fast or in an uncontrolled way.

What is a BMPR1A mutation?

People with a mutation in the BMPR1A gene have a condition called Juvenile polyposis syndrome (JPS). JPS increases the risk of polyps (tissue growths) in the colon or rectum. These polyps can lead to an increased risk of colorectal cancer. JPS also increases the risk for certain other types of cancers, including stomach cancer.

What are the risks of cancer for people with a BMPR1A mutation?

Having a mutation in BMRP1A increases the risk for colorectal cancer and may slightly increase the risk of stomach cancer.

Cancer typeLifetime risk with a BMPR1A mutationLifetime risk for the general population
Colon cancerUp to 50%4%
Stomach cancerRare*Less than 1%

*In a meta-analysis of 204 patients with a BMPR1A mutation, only one developed stomach cancer.

JPS may increase the risk for other cancers, but more research is needed to confirm this.

What can people with a BMPR1A mutation do?

Expert guidelines provide recommendations for colorectal and stomach cancer in people with a BMPR1A mutation.

People with an inherited mutation in BMPR1A may also qualify for specific treatments or clinical trials.

Cancer risk management for people with a BMPR1A mutation

If you have a BMPR1A mutation, we recommend that you speak with a genetics expert who can look at your personal and family history of cancer and help you decide on a plan for managing your risk.

Expert guidelines are available to help people with a BMPR1A mutation manage their increased cancer risk.

NCCN guidelines for colon and stomach cancer for people with a BMPR1A mutation are summarized below.  

Colorectal and stomach cancer risk management

Cancer typeBeginning ageRecommendationAdditional Information
Colon cancer18Colonoscopy every 1-3 years, based on number, size and pathology of polypsBased on NCCN guidelines
Stomach cancer18Upper endoscopy (a procedure that lets your doctor see inside your stomach and small intestine) every 1–3 years. Time between upper endoscopies should be based on polyp size, number and pathology.
If no polyps are detected, consider increasing to every 5 years.
Based on NCCN guidelines

There are no current screening guidelines for other types of cancers in people with BMPR1A mutations.

Cancer treatment

There are no current specific treatment considerations for people with BMPR1A mutations.

If you have a BMPR1A mutation, try to find a team of doctors with experience in genetics and hereditary gastrointestinal cancer syndromes.

Other considerations

People with a BMPR1A mutation may also be at increased risk for anemia and gastrointestinal bleeding.

Ask your doctor

If you or a family member has a mutation in BMPR1A, consider asking your doctor the following:

  • What symptoms should I watch for?
  • Are there new options for cancer prevention or treatment or clinical trials I should know about?

As we learn more about BMPR1A mutations, we may discover more about the risk of other types of cancer. Check with a genetics expert to ensure that you receive the most up-to-date information about cancer risks and medical options for people with a BMPR1A mutation.

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