Breast CarcinomacRISKNCT06792721
MEASUREMENT OF CIRCULATING MUTATION BURDEN
An observational study of Breast Carcinoma and Genetic Predisposition to Cancer, run by Centre Francois Baclesse at 1 site in France.
Trial summary
Cancer-free women with a hereditary predisposition to breast and/or ovarian cancer Read more about this study
- Who is it for?
- Ages 30 to 50 years, women onlyHealthy volunteers can take part
- Conditions the study is for
- Breast Carcinoma, Genetic Predisposition to Cancer, BRCA Mutation
- What is being tested?
- Mutation Burden cfMB analysis
- How many people
- 30 participants
- Where
- 1 siteFrance
- Study dates
- 4 Jul 2025to 30 Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 30 to 50 years
- Women only
- Healthy volunteers accepted
- Adult
Study population: Participant is a carrier of a hereditary predisposition linked to a BRCA1/2 mutation (case), and the other participant (sister) is not a carrier (control).
Who may be able to join
- Female participant
- Participant undergoing oncogenetic follow-up at the Centre François Baclesse
- Participant belonging to a pair of related biological siblings
- Within the sibling pair, one participant is a carrier of a hereditary predisposition linked to a BRCA1/2 mutation (case), and the other participant is not a carrier (control).
- Participant between 30 and 50 years of age
- Participant affiliated to a social security scheme
- Participant having given her consent to participate by signing an informed consent form prior to any specific study-related procedure.
Who cannot join
- -
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Centre François Baclesse
Caen, France
Louise May THIBAUT, MD, lm.thibaut@baclesse.unicancer.fr
About this study
Official title: EVALUATION OF CANCER RISK BY MEASUREMENT OF CIRCULATING MUTATIONAL BURDEN IN CARRIERS OF A GENETIC PREDISPOSITION
Cancer-free women with a hereditary predisposition to breast and/or ovarian cancer
Read the detailed description
This proof-of-concept trial will be conducted with family members being monitored for a predisposition to breast and/or ovarian cancer linked to a BRCA1/2 gene mutation.
The study will be proposed to two sisters from the same sibling:
- one is a carrier of the genetic mutation
- and the other not,
Blood tests will evaluate the Mutation Burden cfMB
- Being tested
- Mutation Burden cfMB analysis
- Keywords
- cfMB, predisposition to cancer, BRCA1, BRCA2, breast cancer
- Medical subject headings
- Breast Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Mutation Burden cfMB analysisGenetic
Blood samples will be collected (one time only)
| Study group | Role | What they receive |
|---|---|---|
| Case group | participant with a hereditary predisposition linked to a BRCA1/2 mutation (case) Receives: Genetic: Mutation Burden cfMB analysis | |
| Control group | participant not carrying a hereditary predisposition linked to a BRCA1/2 mutation (control) participant from the same sibling as the carrier participant (sister) Receives: Genetic: Mutation Burden cfMB analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Comparing the mutational burden in a person genetically predisposed to cancer with that of a non-predisposed relative
Measurement and quantification of genomic signature on circulating DNA (mutational burden) derived from whole blood in a carrier of the genetic mutation and in her non-carrier first-degree relative.
Measured: At the enrollment in the study (one point)
Secondary outcomes (2)
Mutation profiling, COSMIC-type signature generation
Evaluate mutational signatures on circulating free DNA (cfDNA) in correlation with hereditary predisposition linked to the BRCA1 and BRCA2 genes
Measured: At the enrollment in the study (one point)
Identify and evaluate complementary or alternative molecular signatures
Study of epigenetic biomarkers, such as circulating histone methylation
Measured: At the enrollment in the study (one point)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jan 2025
- Study start4 Jul 2025
- Primary completion15 Jul 2027 (estimated)
- Study completion30 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Breast CarcinomaStudies 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Francois Baclesse
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06792721
- Sponsor's protocol ID
- 2024-A02540-47
- Acronym
- cRISK
- Status last verified
- Jul 2025
- First submitted
- 20 Jan 2025
- Last updated
- 8 Jul 2025
- Results posted
- No
- Data monitoring committee
- 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 8 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- EVALUATION OF CANCER RISK BY MEASUREMENT OF CIRCULATING MUTATIONAL BURDEN IN CARRIERS OF A GENETIC PREDISPOSITION
- ClinicalTrials.gov ID
- NCT06792721
- Acronym / sponsor ID
- cRISK / 2024-A02540-47
- Keywords
- cfMB, predisposition to cancer, BRCA1, BRCA2, breast cancer
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Centre Francois BaclesseUniversity, hospital or other
- Study start
- 4 Jul 2025 (actual)
- Primary completion
- 15 Jul 2027 (estimated)
- Study completion
- 30 Dec 2027 (estimated)
- First posted
- 27 Jan 2025 (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.
Cancer-free women with a hereditary predisposition to breast and/or ovarian cancer
Detailed description
This proof-of-concept trial will be conducted with family members being monitored for a predisposition to breast and/or ovarian cancer linked to a BRCA1/2 gene mutation.
The study will be proposed to two sisters from the same sibling:
- one is a carrier of the genetic mutation
- and the other not,
Blood tests will evaluate the Mutation Burden cfMB
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Case group | – | Genetic: Mutation Burden cfMB analysisparticipant with a hereditary predisposition linked to a BRCA1/2 mutation (case) |
| Control group | – | Genetic: Mutation Burden cfMB analysisparticipant not carrying a hereditary predisposition linked to a BRCA1/2 mutation (control) participant from the same sibling as the carrier participant (sister) |
Who may qualify
- Ages
- 30 to 50 years
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult
- Study population
- Participant is a carrier of a hereditary predisposition linked to a BRCA1/2 mutation (case), and the other participant (sister) is not a carrier (control).
Key inclusion criteria (7 listed)
- Female participant
- Participant undergoing oncogenetic follow-up at the Centre François Baclesse
- Participant belonging to a pair of related biological siblings
- Within the sibling pair, one participant is a carrier of a hereditary predisposition linked to a BRCA1/2 mutation (case), and the other participant is not a carrier (control).
- Participant between 30 and 50 years of age
Key exclusion criteria (1 listed)
- -
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Mutation Burden cfMB analysisBlood samples will be collected (one time only) | Genetic | Case group, Control group |
Primary outcome
Comparing the mutational burden in a person genetically predisposed to cancer with that of a non-predisposed relative
Time frame: At the enrollment in the study (one point)
Measurement and quantification of genomic signature on circulating DNA (mutational burden) derived from whole blood in a carrier of the genetic mutation and in her non-carrier first-degree relative.
2 secondary outcomes
Mutation profiling, COSMIC-type signature generation
Time frame: At the enrollment in the study (one point)
Identify and evaluate complementary or alternative molecular signatures
Time frame: At the enrollment in the study (one point)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jul 2025.
- 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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Breast Carcinoma and Genetic Predisposition to Cancer, run by Centre Francois Baclesse at 1 site 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 7 inclusion and 1 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: looking for participants now, as of the sponsor's last update on 8 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Louise May THIBAUT, Medical Doctor (0231455050, lm.thibaut@baclesse.unicancer.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Comparing the mutational burden in a person genetically predisposed to cancer with that of a non-predisposed relative (time frame: At the enrollment in the study (one point)). 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 8 Jul 2025.