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

May 13, 2026 updated by: Institut Bergonié

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.

Study Overview

Status

Suspended

Conditions

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.

Study Type

Observational

Enrollment (Estimated)

430

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Amiens, France
        • 1-CHU Amiens
      • Angers, France
        • 2-CHU Angers
      • Angers, France
        • 3-ICO Angers et Nantes
      • Besançon, France
        • 4-CHU Besançon
      • Bordeaux, France
        • 5-CHU Bordeaux
      • Bordeaux, France
        • 6-Institut Bergonié
      • Brest, France
        • 7-CHU Brest
      • Caen, France
        • 8-Centre François Baclesse
      • Chambéry, France
        • 9-CH Métropole Savoie Chambéry
      • Colmar, France
        • 10-CHU Colmar
      • Dijon, France
        • 11-CHU Dijon
      • Grenoble, France
        • 12-CHU Grenoble
      • Le Mans, France
        • 36-CH Le Mans
      • Lille, France
        • 16-CHU Lille
      • Limoges, France
        • 17-CHU Limoges
      • Lyon, France
        • 18a-Hospices Civils Lyon - Lyon Est
      • Lyon, France
        • 18b-Hospices Civils Lyon - Lyon Sud
      • Marseille, France
        • 19-AP-HM Hôpital de la Timone
      • Marseille, France
        • 33-Institut Paoli Calmettes
      • Montpellier, France
        • 20-CHU Montpellier
      • Nantes, France
        • 21-CHU Nantes
      • Nice, France
        • 22-CHU Nice
      • Nice, France
        • 32-Centre Antoine Lacassagne
      • Niort, France
        • 37-CH Niort
      • Nîmes, France
        • 23-CHU Nîmes
      • Paris, France
        • 13a-AP-HP Hôpital Avicenne
      • Paris, France
        • 13b-AP-HP Hôpital Saint-Antoine
      • Paris, France
        • 13c-APH-HP Hôpital Salpétrière
      • Paris, France
        • 13d-AP-HP Hôpital Trousseau
      • Paris, France
        • 13e-AP-HP Hôpital Saint-Louis
      • Paris, France
        • 13f-AP-HP Hôpital Robert Debré
      • Paris, France
        • 14-Institut Curie
      • Pointe à Pitre, France
        • 38-CHU Guadeloupe
      • Poitiers, France
        • 24-CHU Poitiers
      • Reims, France
        • 25-Institut du Cancer Courlancy
      • Rennes, France
        • 26-Centre Eugène Marquis
      • Rennes, France
        • 27-CHU Rennes
      • Rouen, France
        • 35-CHU Rouen
      • Saint-Etienne, France
        • 28-CHU Saint-Etienne
      • Strasbourg, France
        • 29-Institut Strauss
      • Toulouse, France
        • 30-CHU Toulouse
      • Tours, France
        • 31-CHU Tours
      • Troyes, France
        • 40-CHU Troyes
      • Valence, France
        • 34-CH Valence
      • Villejuif, France
        • 15-Institut Gustave Roussy

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

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.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Cross-Sectional

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of subjects with a cancer event
Time Frame: 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.
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 Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of subjects with a breast cancer event
Time Frame: 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 breast 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 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
Time Frame: 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 a thyroid 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 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
Time Frame: 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 an endometrial 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 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
Time Frame: 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 renal 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 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
Time Frame: 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.
Number of subjects with a colorectal 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 colorectal cancer event or date of death from any cause, whichever came first, assessed up to 20 years.
Number of subjects with a melanoma cancer event
Time Frame: From date of identification of a constitutional alteration of the PTEN gene until the date of first melanoma cancer event or date of death from any cause, whichever came first, assessed up to 20 years.
Number of subjects with a melanoma 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 melanoma cancer event or date of death from any cause, whichever came first, assessed up to 20 years.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Institut Bergonié

Investigators

  • Principal Investigator: Virginie BUBIEN, Dr, Institut Bergonie

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 12, 2023

Primary Completion (Estimated)

January 1, 2048

Study Completion (Estimated)

January 1, 2048

Study Registration Dates

First Submitted

November 10, 2022

First Submitted That Met QC Criteria

November 17, 2022

First Posted (Actual)

November 29, 2022

Study Record Updates

Last Update Posted (Actual)

May 15, 2026

Last Update Submitted That Met QC Criteria

May 13, 2026

Last Verified

May 1, 2026

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • IB2022-02

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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