Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic condition that results from a change in your PTEN tumor suppressor gene. Symptoms vary greatly, but may include high birth weight, macrocephaly (large head), hamartomas (tumor-like growths) and intellectual disability. There’s no specific treatment. Rather, treatment involves managing symptoms.
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic disorder that increases your risk of getting tumors. It’s part of a group of conditions called PTEN hamartoma tumor syndrome (PHTS). PHTS includes both Cowden syndrome and BRRS.
BRRS usually happens when there’s a mutation (change) in your PTEN gene. Your PTEN gene produces proteins that slow the growth of tumors. Because people with BRRS have a damaged PTEN gene, many develop hamartomas (tumor-like growths) and other noncancerous and cancerous tumors. They also have an increased risk of developing cancers. Other symptoms may include high birth weight, macrocephaly (large head), freckles on your penis, and various developmental and intellectual delays.
Other names for Bannayan-Riley-Ruvalcaba syndrome include:
Experts don’t know exactly how many people have BRRS because symptoms vary widely and some are subtle. But most researchers believe the condition is rare.
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Bannayan-Riley-Ruvalcaba syndrome symptoms vary significantly and may include:
BRRS can occur for two reasons:
Your PTEN gene produces a protein that slows the growth of tumors. When this gene is missing or not working properly, your cells can divide uncontrollably, resulting in the development of hamartomas and other cancerous and noncancerous tumors.
Experts have yet to determine why PTEN gene mutations cause other BRRS symptoms, such as macrocephaly, muscular and skeletal abnormalities, and developmental and intellectual delays.
Parents can pass BRRS to their biological children through autosomal dominant inheritance. This means that if one parent has one copy of the mutated PTEN gene, then their child has a 50% chance of inheriting the condition.
If a healthcare provider suspects that you could have BRRS, they’ll likely recommend genetic testing of the PTEN gene. Your provider will use gene sequencing — a process that examines each component of the gene for changes or mutations.
PTEN testing is accurate. If your provider finds a PTEN gene mutation, then they can confirm your BRRS diagnosis with 100% certainty. But only 60% of people with BRRS symptoms have an identifiable gene mutation. This means that up to 40% of people with BRRS symptoms will receive a normal test result. If you’re interested in PTEN testing, talk to your healthcare provider.
There’s no specific treatment for BRRS. Rather, Bannayan-Riley-Ruvalcaba syndrome treatment involves managing the signs and symptoms that are unique to you.
People with BRRS should have routine monitoring for various types of cancers, whether they have BRRS symptoms or not. Healthcare providers recommend that people who have a documented PTEN gene mutation follow the screening guidelines for Cowden syndrome. This includes screenings for:
Genetic counseling is beneficial for people with BRRS. Family members who don’t show BRRS symptoms should have PTEN gene testing to determine if they also need to follow cancer screening guidelines.
For each cancer type, there are specific surveillance guidelines, including when to start screening. Screening doesn’t start at the time of diagnosis for all cancers — and it depends on the person’s age at diagnosis.
For people under the age of 18, healthcare providers may recommend:
No, you can’t prevent BRRS because it’s a genetic condition that results from a gene mutation. People who have BRRS can get genetic counseling to help them make informed decisions about healthcare and having biological children.
The outlook for BRRS varies greatly from person to person. Some people may have several signs and symptoms — others may have few or none at all. There are many management options available that can help people with BRRS improve their overall quality of life, including physical and speech therapy.
As mentioned above, people with BRRS should have regular screenings to check for various types of cancer. Ask your healthcare provider when you should start screenings and how often you should have them.
Researchers have yet to discover an average life expectancy for people with BRRS. In fact, there’s no evidence to suggest that people with BRRS have a reduced life expectancy. However, people with BRRS have a higher risk of certain cancers at a younger age. For this reason, some people could have cancer-related reduced life expectancy.
If you have immediate family members with BRRS (such as biological siblings, parents or children), then you should ask your healthcare provider about PTEN genetic testing. PTEN testing can tell you if you have a PTEN gene mutation and whether you should have regular screenings for certain cancers.
If you or your child received a BRRS diagnosis, your healthcare provider will work with you to manage symptoms and improve quality of life. They’ll also tell you how often you should have preventive cancer screenings.
If you or a loved one received a BRRS diagnosis, here are some questions you may want to ask your healthcare provider:
A note from Cleveland Clinic
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic condition that results from a mutation in your PTEN gene. Symptoms vary widely and can range from mild to severe. There’s no specific treatment for BRRS. Instead, treatment focuses on managing your underlying conditions. People with BRRS should have routine screenings for certain types of cancer, including breast, uterine, thyroid and kidney cancers. Talking with a counselor or social worker can help you work through the emotions that can accompany a BRRS diagnosis. You may also wish to join a local or online support group to meet others who share your experience.
Last reviewed by a Cleveland Clinic medical professional on 12/06/2022.
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