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 aged 16 years and older.


Participating in the INSPECT study means that you will receive a digital survey to complete and that we will ask for your permission to retrieve and use your medical data in encrypted form. You do not have to visit the hospital for this study.


Are you interested in participating in the INSPECT study? Please register by using the registration form here.


You can read more about this research on this website.