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

NCT05630105 | Recruiting

• 1 other identifier: IB2022-02
• Study Type: observational
• Target: 430
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

PTEN Gene Mutation

Keywords

PTEN gene mutation; risk of cancer occurence

Outcome Measures

Primary Outcomes (1)

• Number of subjects with a cancer event

  Number of subjects with a cancer event (any cancer) observed in the population of subjects presenting a constitutional alteration of the PTEN gene.

  From date of identification of a constitutional alteration of the PTEN gene until the date of first cancer event or date of death from any cause, whichever came first, assessed up to 20 years.

Secondary Outcomes (6)

• Number of subjects with a breast cancer event

  From date of identification of a constitutional alteration of the PTEN gene until the date of first breast cancer event or date of death from any cause, whichever came first, assessed up to 20 years.

• Number of subjects with a thyroid cancer event

  From date of identification of a constitutional alteration of the PTEN gene until the date of first thyroid cancer event or date of death from any cause, whichever came first, assessed up to 20 years.

• Number of subjects with an endometrial cancer event

  From date of identification of a constitutional alteration of the PTEN gene until the date of first endometrial cancer event or date of death from any cause, whichever came first, assessed up to 20 years.

• Number of subjects with a renal cancer event

  From date of identification of a constitutional alteration of the PTEN gene until the date of first renal cancer event or date of death from any cause, whichever came first, assessed up to 20 years.

• Number of subjects with a colorectal cancer event

  From date of identification of a constitutional alteration of the PTEN gene until the date of first colorectal cancer event or date of death from any cause, whichever came first, assessed up to 20 years.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

National observational cohort of participants identified as carriers of a constitutional alteration of the PTEN gene identified and/or confirmed by the Bergonié Institute, the national reference laboratory for the molecular diagnosis of Cowden's disease between 1997 and 2027.

You may qualify if:

• Male or female.
• Adult or child without age limit.
• 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.
• Participant informed of his genetic diagnosis.
• Participant informed and not having expressed non-opposition to participate in the research.
• Participant affiliated to a French social security system in accordance with French law on research involving the human person.

You may not qualify if:

• Participant under guardianship or curatorship. Exception: a participant with autism may be included in the study.
• Persons deprived of their liberty by a judicial or administrative decision.
• 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.

Sponsors & Collaborators

• Institut Bergonié: lead

Study Sites (1)

Institut Bergonié, Comprehensive Cancer Center

Bordeaux, France

RECRUITING

Study Officials

• Virginie BUBIEN, Dr

  Institut Bergonié

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Virginie BUBIEN, Dr

CONTACT

0556333396; v.bubien@bordeaux.unicancer.fr

Simone MATHOULIN-PELISSIER, Pr

CONTACT

0556333398; s.mathoulin@bordeaux.unicancer.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 10, 2022
• First Posted: November 29, 2022
• Study Start: June 12, 2023
• Primary Completion (Estimated): January 1, 2048
• Study Completion (Estimated): January 1, 2048
• Last Updated: December 2, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)