Bannayan-Ruvalcaba-Riley syndrome

Bannayan-Ruvalcaba-Riley syndrome

A rare autosomal dominant MIM 153480 syndrome characterised by subcutaneous lipomas, haemangiomas, macrocephaly, macrosomy, hypotonia, delayed gross motor and/or speech development, mental retardation, proximal muscle myopathy, and hereditary colorectal cancer. BRR syndrome is one of the hamartomatous polyposis syndromes, including Peutz-Jeghers disease, juvenile polyposis and Cowden syndrome. BRR is caused by a mutation in Phosphatase and tensin (PTEN), a gene on chromosome 10q23.3, which encodes PTEN homolog, a protein that acts as a tumour-suppressor.
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Additional hereditary CRC syndromes that are not routinely tested for include Peutz-Jeghers syndrome, familial juvenile polyposis, Cowden's disease, Bannayan-Ruvalcaba-Riley syndrome, and Li-Fraumeni syndrome.