PTEN Gene MutationCOCONCT05630105
Cancer Risk Assessment in Patients With a Constitutional Alteration of the PTEN Gene
An observational study of PTEN Gene Mutation, run by Institut Bergonié at 45 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- PTEN Gene Mutation
- How many people
- 430 participants
- Where
- 45 sitesFrance
- Study dates
- 12 Jun 2023to Jan 2048
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
45 sites in 1 country.
45 sites in 1 country
France45 sites
1-CHU Amiens
Amiens
2-CHU Angers
Angers
3-ICO Angers et Nantes
Angers
4-CHU Besançon
Besançon
5-CHU Bordeaux
Bordeaux
6-Institut Bergonié
Bordeaux
7-CHU Brest
Brest
8-Centre François Baclesse
Caen
9-CH Métropole Savoie Chambéry
Chambéry
10-CHU Colmar
Colmar
11-CHU Dijon
Dijon
12-CHU Grenoble
Grenoble
36-CH Le Mans
Le Mans
16-CHU Lille
Lille
17-CHU Limoges
Limoges
18a-Hospices Civils Lyon - Lyon Est
Lyon
18b-Hospices Civils Lyon - Lyon Sud
Lyon
19-AP-HM Hôpital de la Timone
Marseille
33-Institut Paoli Calmettes
Marseille
20-CHU Montpellier
Montpellier
21-CHU Nantes
Nantes
22-CHU Nice
Nice
32-Centre Antoine Lacassagne
Nice
23-CHU Nîmes
Nîmes
37-CH Niort
Niort
13a-AP-HP Hôpital Avicenne
Paris
13b-AP-HP Hôpital Saint-Antoine
Paris
13c-APH-HP Hôpital Salpétrière
Paris
13d-AP-HP Hôpital Trousseau
Paris
13e-AP-HP Hôpital Saint-Louis
Paris
13f-AP-HP Hôpital Robert Debré
Paris
14-Institut Curie
Paris
38-CHU Guadeloupe
Pointe à Pitre
24-CHU Poitiers
Poitiers
25-Institut du Cancer Courlancy
Reims
26-Centre Eugène Marquis
Rennes
27-CHU Rennes
Rennes
35-CHU Rouen
Rouen
28-CHU Saint-Etienne
Saint-Etienne
29-Institut Strauss
Strasbourg
30-CHU Toulouse
Toulouse
31-CHU Tours
Tours
40-CHU Troyes
Troyes
34-CH Valence
Valence
15-Institut Gustave Roussy
Villejuif
About this study
Official title: 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.
Read the 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
- Keywords
- PTEN gene mutation, risk of cancer occurence
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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
Number of subjects with a breast cancer event (any cancer) observed in the population of subjects presenting a constitutional alteration of the PTEN gene.
Measured: 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
Number of subjects with a thyroid cancer event (any cancer) observed in the population of subjects presenting a constitutional alteration of the PTEN gene.
Measured: 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
Number of subjects with an endometrial cancer event (any cancer) observed in the population of subjects presenting a constitutional alteration of the PTEN gene.
Measured: 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
Number of subjects with a renal cancer event (any cancer) observed in the population of subjects presenting a constitutional alteration of the PTEN gene.
Measured: 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
Number of subjects with a colorectal cancer event (any cancer) observed in the population of subjects presenting a constitutional alteration of the PTEN gene.
Measured: 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
Number of subjects with a melanoma cancer event (any cancer) observed in the population of subjects presenting a constitutional alteration of the PTEN gene.
Measured: 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.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Nov 2022
- Study start12 Jun 2023
- Primary completionJan 2048 (estimated)
- Study completionJan 2048 (estimated)
Why it stopped: Cyber attack of the enrollment system, new system on going to be implemented
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PTEN Gene MutationStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 430 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Institut Bergonié
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Virginie BUBIEN, Dr, Principal investigator, Institut Bergonié
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05630105
- Sponsor's protocol ID
- IB2022-02
- Acronym
- COCO
- Status last verified
- May 2026
- First submitted
- 10 Nov 2022
- Last updated
- 15 May 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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.
- ClinicalTrials.gov ID
- NCT05630105
- Acronym / sponsor ID
- COCO / IB2022-02
- Conditions
- PTEN Gene Mutation
- Keywords
- PTEN gene mutation, risk of cancer occurence
- Study type
- Observational
- Recruitment status
- SuspendedReason stopped: Cyber attack of the enrollment system, new system on going to be implemented
- Enrolment
- 430 participants (estimated)
- Lead sponsor
- Institut BergoniéUniversity, hospital or other
- Study start
- 12 Jun 2023 (actual)
- Primary completion
- Jan 2048 (estimated)
- Study completion
- Jan 2048 (estimated)
- First posted
- 29 Nov 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (6 listed)
- 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.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
6 secondary outcomes
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 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 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 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 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 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.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 May 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Virginie BUBIEN, Dr principal investigator
Institut Bergonié
45 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of PTEN Gene Mutation, run by Institut Bergonié at 45 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: paused, as of the sponsor's last update on 15 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 45 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 May 2026.