MEASUREMENT OF CIRCULATING MUTATION BURDEN
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexFemale
Age30-50
SponsorCentre Francois Baclesse
About this trial
Cancer-free women with a hereditary predisposition to breast and/or ovarian cancer
Eligibility criteria
This trial accepts healthy volunteersQualifiers
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).
Disqualifiers
None
Trial 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).
Trial design
Design model
Family-based
Time perspective
Prospective
Treatments tested in this trial
Mutation Burden cfMB analysis
GeneticBlood samples will be collected (one time only)
Treatment groups
30 Participants
are divided into 2 treatment groupsGroup A: Case group1 intervention
Group B: Control group1 intervention
Trial outcomes
Primary outcomes
1
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.
Time frame
At the enrollment in the study (one point)Secondary outcomes
1
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
Time frame
At the enrollment in the study (one point)2
Identify and evaluate complementary or alternative molecular signatures
Study of epigenetic biomarkers, such as circulating histone methylation
Time frame
At the enrollment in the study (one point)Sponsors and contacts
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Source ClinicalTrials.gov