Bannayan–Riley–Ruvalcaba syndrome

Bannayan–Riley–Ruvalcaba syndrome (BRRS or BRR syndrome) is a very rare autosomal dominant hamartomatous disorder caused by a mutation in the PTEN gene. It is considered in the family of hamartomatous polyposis syndrome.

There are no formal diagnostic criteria for this disease, but characteristic features include:

Women with this syndrome have a higher risk of breast cancer. Breast MRI screening is indicated in this population.

 

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Article Information

rID: 27822
Section: Syndromes
Synonyms or Alternate Spellings:
  • BRRS
  • BRR syndrome

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