MEASUREMENT OF CIRCULATING MUTATION BURDEN
Breast Carcinoma · Genetic Predisposition to Cancer · BRCA Mutation · cfMB · Mutation Burden
What this study involves
The registry says this study is recruiting. Individual locations may have different availability.
- Study type
- Observational
- Phase
- Not applicable / not listed
- Age range
- 30 years - 50 years
- Sex eligible
- Female
- Healthy volunteers
- Accepted
- Participants
- 30 Estimated
These are starting points, not an eligibility decision. The research team must review the full requirements.
About the research
Cancer-free women with a hereditary predisposition to breast and/or ovarian cancer
Read the full 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
Who may be able to participate?
The list below is the sponsor’s full registry wording. It can include conditions, prior treatment, test results and other requirements. A match in search does not mean you qualify.
Inclusion Criteria:
- 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.
Exclusion Criteria:
- Male gender
- Current cancer or a history of cancer
- Current smoker or someone who quit smoking less than 10 years ago with a cumulative exposure of \> 10 packs/year)
- Presence of another hereditary predisposition to cancer
- History of risk-reduction surgery (adnexectomy, fimbriectomy, mastectomy)
- Chronic immunomodulatory treatment
- Patients who are incarcerated, under legal guardianship, subject to a legal protective measure, or unable to give informed consent
- Patients unable to participate in the study for geographic, social, or psychopathological reasons
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).
Understand screeningTreatment, groups and participation
The registry may describe treatments and study duration without a complete visit calendar. Ask the study team for the exact schedule, procedures, risks, costs and alternatives. Keep your usual care plan unless your treating clinician tells you otherwise.
- Assignment
- Not reported
- Masking
- Not reported
Case group
participant with a hereditary predisposition linked to a BRCA1/2 mutation (case)
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)
Genetic: Mutation Burden cfMB analysis
Mutation Burden cfMB analysis GENETIC
Blood samples will be collected (one time only)
What researchers are measuring
Outcome measures describe what is being studied. They are not proof that a treatment works.
Primary measures
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.
Secondary measures
Mutation profiling, COSMIC-type signature generation
Time frame: At the enrollment in the study (one point)
Evaluate mutational signatures on circulating free DNA (cfDNA) in correlation with hereditary predisposition linked to the BRCA1 and BRCA2 genes
Identify and evaluate complementary or alternative molecular signatures
Time frame: At the enrollment in the study (one point)
Study of epigenetic biomarkers, such as circulating histone methylation
Review the complete result tables and limitations in the official record.
Open official results ↗Research locations (1)
The overall study status and a local site’s status can differ. Confirm that location’s availability before traveling.
1 locations
Centre François BaclesseCaen, France, FranceRecruiting
Study team and timeline
- Lead sponsor
- Centre Francois Baclesse
- Study start
- Jul 4, 2025 Actual
- Primary completion
- Jul 15, 2029 Estimated
- Study completion
- Dec 30, 2029 Estimated
- First posted
- Jan 27, 2025 Actual
- Last updated
- Nov 10, 2026 Actual
Official study contacts
Official study title
EVALUATION OF CANCER RISK BY MEASUREMENT OF CIRCULATING MUTATIONAL BURDEN IN CARRIERS OF A GENETIC PREDISPOSITION
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Source: ClinicalTrials.gov API v2. Information is submitted by sponsors and investigators. NLM does not approve the safety or science of all listed studies. Registry disclaimer.
Retrieved: Nov 12, 2026 · Last registry update: Nov 10, 2026
