"Bannayan-Riley-Ruvalcaba syndrome, also known as Bannayan-Zonana syndrome, Riley-Smith syndrome, or Ruvalcaba-Myhre-Smith syndrome, is a rare hamartomatous polyposis syndrome caused by mutation to the PTEN gene. It is a type of PTEN-related disease, and has significant overlap with Cowden syndrome 5."
"Bannayan-Riley-Ruvalcaba syndrome is caused by mutation to the tumour suppressor gene phosphatase and tensin homolog (PTEN) 5. Mutations are inherited in an autosomal dominant inheritance, but up to ~50% of cases are de novo 5."