NCT06792721RecruitingNot Applicable
EVALUATION OF CANCER RISK BY MEASUREMENT OF CIRCULATING MUTATIONAL BURDEN IN CARRIERS OF A GENETIC PREDISPOSITION
Centre Francois Baclesse1 site in 1 country30 target enrollmentStarted: July 4, 2025Last updated:
Conditions
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Enrollment
- 30
- Locations
- 1
- Primary Endpoint
- Comparing the mutational burden in a person genetically predisposed to cancer with that of a non-predisposed relative
Study Overview
Brief Summary
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
- Study Type
- Observational
- Observational Model
- Family Based
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 30 Years to 50 Years (Adult)
- Sex
- Female
- Accepts Healthy Volunteers
- Yes
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
- Not provided
Outcomes
Primary Outcomes
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 Outcomes
- Mutation profiling, COSMIC-type signature generation(At the enrollment in the study (one point))
- Identify and evaluate complementary or alternative molecular signatures(At the enrollment in the study (one point))
Investigators
Study Sites (1)
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