PTEN-hamartoma-tumour syndromes

PTEN-hamartoma-tumour syndromes

A group of four syndromes—Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Proteus syndrome and Proteus-like syndrome—all of which are caused by a mutation in PTEN, a gene located on chromosome 10q23.3, which encodes PTEN, a tumour suppressor gene that down-regulates the AKT/PKB-signalling pathway.