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.

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.

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.

Inclusion Criteria:

1. Male or female.
2. Adult or child without age limit.
3. Carrier of a constitutional or mosaic alteration of the PTEN gene established and/or confirmed by the Institut Bergonié's genetics laboratory, following a request for molecular diagnosis made between 1997 and 2027.
4. Participant informed of his genetic diagnosis.
5. Participant informed and not having expressed non-opposition to participate in the research.
6. Participant affiliated to a French social security system in accordance with French law on research involving the human person.

Exclusion Criteria:

1. Participant under guardianship or curatorship. Exception: a participant with autism may be included in the study.
2. Persons deprived of their liberty by a judicial or administrative decision.
3. Persons under psychiatric care, persons admitted to a health or social establishment for purposes other than research; Exception: a participant with autism may be included in the study.