The PTEN Hamartoma Tumor Syndrome (PHTS) is a rare, genetic syndrome that is associated with an increased risk for several types of cancer.
The INSPECT study (Investigation into PTEN-related cancer and phenotype) is a European study that aims to unravel the PHTS phenotype by understanding the phenotypic variability and to provide accurate and personalized cancer risks and prognoses. It is designed as a European multicenter observational cohort study based on medical records and patient questionnaires.
INSPECT is coordinated by a research team of the Radboud university medical center in Nijmegen, the Netherlands, in close cooperation with expertise centers participating in the ‘European Reference Network Genetic Tumour risk Syndromes’ (ERN GENTURIS) and collaborative centers of expertise in ERN GENTURIS.
Patients with a pathogenic germline variant in the PTEN gene (i.e. PHTS patients) who are at least 16 years and mentally competent are included in the study.