The PTEN Research Foundation is an independent UK-registered charity (1173589), dedicated to developing targeted therapies to improve the lives of people with PTEN hamartoma tumour syndrome (PHTS).
PTEN hamartoma tumour syndrome (PHTS) is a rare genetic disease caused by mutations in the PTEN gene. An individual with a PTEN mutation may be diagnosed as having Cowden Syndrome (CS), Bannayan-Riley-Ruvalcaba Syndrome (BRRS), or Autism Spectrum Disorder (ASD) associated with macrocephaly (large head). Together this spectrum of conditions is known as PHTS.