MEASUREMENT OF CIRCULATING MUTATION BURDEN (cRISK)

July 7, 2025 updated by: Centre Francois Baclesse

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

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Estimated)

30

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

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).

Description

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:

-

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Case group
participant with a hereditary predisposition linked to a BRCA1/2 mutation (case)
Genetic: Mutation Burden cfMB analysis
Blood samples will be collected (one time only)
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
Blood samples will be collected (one time only)

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
At the enrollment in the study (one point)

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
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)
Study of epigenetic biomarkers, such as circulating histone methylation
At the enrollment in the study (one point)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Francois Baclesse

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 4, 2025

Primary Completion (Estimated)

July 15, 2027

Study Completion (Estimated)

December 30, 2027

Study Registration Dates

First Submitted

January 20, 2025

First Submitted That Met QC Criteria

January 20, 2025

First Posted (Actual)

January 27, 2025

Study Record Updates

Last Update Posted (Estimated)

July 8, 2025

Last Update Submitted That Met QC Criteria

July 7, 2025

Last Verified

July 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2024-A02540-47

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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