Apply for funding Close Home For Researchers and Professionals For Families Living With PHTS About PTEN Research Apply for funding » About PHTS and the PTEN gene What is PHTS? PHTS stands for PTEN hamartoma tumour syndrome. It is a rare genetic condition caused by an alteration (called a mutation) in a gene which makes a protein called PTEN. Read more about what this gene does here. PHTS gets its name because a common characteristic of the condition is ‘lumps and bumps’ on the skin, gums and tongue as well as other parts of the body. Called hamartomas, these lumps are non-cancerous (benign), but people with PHTS are also at greater risk of getting certain types of cancer compared with other people in the general population. Other common characteristics associated with PHTS include having a larger than average head (known as macrocephaly) and developmental delay. Read more about the symptoms of PHTS here. PHTS diagnosis A diagnosis of PHTS is made as a result of a genetic test showing an alteration in the PTEN gene. Before the widespread use of genetic testing, people were diagnosed according to their particular set of symptoms, with conditions including Cowden syndrome (CS) or Bannayan-Riley-Ruvalcaba syndrome (BRRS). Find out more about diagnosis of PHTS here. Living with PHTS Currently, people with PHTS are treated according to the symptoms they have. It is also advised that people with PHTS participate in cancer screening (sometimes called cancer surveillance) programmes in which they are periodically checked so that any signs of cancer can be spotted and treated as early as possible. Find out more here. At the moment there are no formally approved treatments for PHTS. You can find blog posts about what it is like to live with PHTS on the PTEN UK&I Patient Group website. PTEN Research is actively seeking to develop treatments for PHTS by funding research that will increase our understanding of the condition and assess potential medicines. Find out more about our research here. Information for Families Living With PHTS About PHTS and the PTEN gene What does the PTEN gene do? Symptoms and characteristics How is PHTS diagnosed? What happens after a PHTS diagnosis? PHTS and Covid-19 vaccination Learn more. Accept cookies For Researchers and Professionals Apply for research funding Targeted calls PHTS and the PTEN Gene Research strategy Projects and publications Partner with us For Families Living With PHTS About PHTS and the PTEN gene Our research Get involved! Additional resources and information Use of animals in research About PTEN Research Our Team Our Trustees Our Scientific Advisory Board Newsletters Connect contact@ptenresearch.org 3rd Floor, Paternoster House 65 St Paul's Churchyard London EC4M 8AB Copyright © 2021 PTEN Research Registered Charity Number: 11773589 Cookie Policy Privacy Policy Terms & Conditions