Bannayan-Riley-Ruvalcaba syndrome

Causes

What gene change causes Bannayan-Riley-Ruvalcaba syndrome?

Around 70% of people with Bannayan-Riley-Ruvalcaba syndrome have a change in the PTEN gene. Changes in the PTEN gene can also cause a spectrum of similar disease, including Cowden syndrome and PTEN-related Proteus syndrome.

References
Show More Content Like This

More Causes Content

Does everyone with Bannayan-Riley-Ruvalcaba syndrome have a gene mutation?

Why does Bannayan-Riley-Ruvalcaba syndrome cause cancer?

What should I avoid if I have Bannayan-Riley-Ruvalcaba syndrome?

Does everyone with Bannayan-Riley-Ruvalcaba syndrome have a gene mutation?

Around 70% of individuals diagnosed with Bannayan-Riley-Ruvalcaba syndrome have a mutation in the PTEN gene.

References
Why does Bannayan-Riley-Ruvalcaba syndrome cause cancer?

Bannayan-Riley-Ruvalcaba syndrome is caused by gene changes in the PTEN gene. The PTEN gene is a tumor suppressor gene, meaning that it in involved in making sure that cells do not overgrow or replicate too quickly. When there is a mutation in this gene, cells replicate over and over again, which causes a tumor formation. Some of the tumors found in BRRS are benign (non-cancerous) and some can be malignant (cancer-causing).

For more information, visit the "Symptoms" section for BRRS on ThinkGenetic.com or by visiting GeneReviews website for BRRS at https://www.ncbi.nlm.nih.gov/books/NBK1488/

References
  • Eng C. PTEN Hamartoma Tumor Syndrome. 2001 Nov 29 [Updated 2016 Jun 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1488/#
What should I avoid if I have Bannayan-Riley-Ruvalcaba syndrome?

Bannayan-Riley-Ruvalcaba syndrome is caused by mutations in the PTEN gene, which can cause excessive growth of cells. For this reason, it's recommended that skin lesions are only removed if they are suspected to be dangerous, as they can regrow with keloid formations.

It is recommended that you speak with your healthcare provider, specifically a dermatologist, for any further questions.

References
  • Eng C. PTEN Hamartoma Tumor Syndrome. 2001 Nov 29 [Updated 2016 Jun 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1488/#

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me