Assessing cancer risk in patients with PTEN gene mutations
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 study is trying to see how likely people with PTEN gene mutations are to develop cancer by collecting information about their medical history and any tumors they may have.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 430 (estimated) |
| Sex | All |
| Sponsor | Institut Bergonié Academic / other |
| Locations | 1 site (Bordeaux) |
| Trial ID | NCT05630105 on ClinicalTrials.gov |
What this trial studies
This multicentric, observational study aims to estimate the risk of cancer occurrence in individuals carrying a PTEN mutation. Participants will complete an initial clinical questionnaire detailing their medical history, including any malignant tumor pathologies. Following this, annual questionnaires will be sent to update information related to tumor pathology. The study will also gather data from deceased participants or those lost to follow-up, ensuring compliance with ethical standards regarding data usage.
Who should consider this trial
Good fit: Ideal candidates include individuals of any age who have a confirmed constitutional or mosaic alteration of the PTEN gene.
Not a fit: Patients who do not carry a PTEN gene mutation or those under guardianship or psychiatric care may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide critical insights into cancer risk for patients with PTEN mutations, potentially guiding surveillance and preventive strategies.
How similar studies have performed: While there have been studies on cancer risks associated with genetic mutations, this specific focus on PTEN mutations in a national cohort is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Bordeaux
- Institut Bergonié, Comprehensive Cancer Center — Bordeaux, France (Recruiting)
Study contacts
- Principal investigator: Virginie BUBIEN, Dr — Institut Bergonié
- Study coordinator: Virginie BUBIEN, Dr
- Email: v.bubien@bordeaux.unicancer.fr
- Phone: 0556333396
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.