Participants wanted for research ‘the INSPECT study: a European cohort study on clinical features and cancer in PHTS patients.’


PTEN Hamartoma Tumor Syndrome (PHTS, or in short PTEN Syndrome) is a collective term for syndromes that are caused by a change (or mutation) in the PTEN gene, such as Cowden Syndrome. It is known that PHTS can cause various symptoms and that this can vary between patients. For example, many patients have a large head circumference, some have learning difficulties, but by no means everyone, others have special lumps or sometimes people have had cancer.


The aim of the INSPECT study is to precisely identify the clinical features, cancer risks and cancer prognoses of patients with PHTS and why there are major differences. In this way, we hope to learn more on how to recognize patients with PHTS in time and how the monitoring and treatment of patients with PHTS should take place.


For the INSPECT study, we are looking for PHTS patients of all ages. You can register yourself, your child or the person you care for via


Participation in the INSPECT study means that you will receive a digital questionnaire to complete and that we will ask you for permission to request and encrypted use of your medical data, or the medical data of the person you care for. You do not have to come to the hospital for this study.


Would you like more information about the INSPECT study? Or are you interested in participating in the study?
Then register yourself, your child or the person you care for with your e-mail address via the registration form on this website.


You can read more about this research on this website.



We now expect that data of 100-200 patients will be received for this study from many different countries. The centers that have been registered for participation are indicated on the opposite map with blue location symbols.