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RecruitingNCT06792721ClinicalTrials.gov record

MEASUREMENT OF CIRCULATING MUTATION BURDEN

Breast Carcinoma · Genetic Predisposition to Cancer · BRCA Mutation · cfMB · Mutation Burden

THE QUICK READ

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 screening

Treatment, 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)

Prepare your questions

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

No results are flagged as posted.

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

Louise May THIBAUT, Medical DoctorCONTACTlm.thibaut@baclesse.unicancer.fr0231455050
Official study title

EVALUATION OF CANCER RISK BY MEASUREMENT OF CIRCULATING MUTATIONAL BURDEN IN CARRIERS OF A GENETIC PREDISPOSITION

A HUMAN NEXT STEP

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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