NCT05630105

Cancer Risk Assessment in Patients With a Constitutional Alteration of the PTEN Gene

National Cohort of Patients With Cowden's Disease and With a Constitutional Alteration of the PTEN Gene for the Prospective Assessment of the Risk of Cancer.

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 430 (estimated)
• Sponsor: Institut Bergonié · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

This is a multicentric, observational, retrospective and prospective study, aiming to estimate the risk of cancer occurrence in subjects carrying a PTEN mutation, based on the constitution of a national cohort.

Detailed description

After collection of the non objection and verification of the eligibility criteria, a first clinical questionnaire will be completed by the participant and the prescribing physician to collect the main medical events including the history of malignant tumor pathologies until the date of inclusion in the study. Thereafter, an annual questionnaire will be sent to the participants to update the elements related to a tumor pathology. For the case of patients who have died or been lost to follow-up, only the information from the first clinical questionnaire will be collected from the data available from the prescribing physician without informing the relatives. However, the investigating center will have to check that these patients have not objected, during their lifetime, to the use of their data.

Conditions

• PTEN Gene Mutation

Timeline

• Start date: 2023-06-12
• Primary completion: 2048-01-01
• Completion: 2048-01-01
• First posted: 2022-11-29
• Last updated: 2025-12-02

Locations

1 site across 1 country: France