MEASUREMENT OF CIRCULATING MUTATION BURDEN

NCT06792721 | Recruiting

• 1 other identifier: 2024-A02540-47
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

Cancer-free women with a hereditary predisposition to breast and/or ovarian cancer

Conditions

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

Keywords

cfMB; predisposition to cancer; BRCA1; BRCA2; breast cancer

Outcome Measures

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.

  At the enrollment in the study (one point)

Secondary Outcomes (2)

• 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)

Study Arms (2)

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

Interventions

Mutation Burden cfMB analysis GENETIC

Blood samples will be collected (one time only)

Case group; Control group

Eligibility Criteria

• Age: 30 Years - 50 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• 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).

You may qualify if:

• 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.

Sponsors & Collaborators

• Centre Francois Baclesse: lead

Study Sites (1)

Centre François Baclesse

Caen, France, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples will be collected for mutation Burden cfMB analysis

MeSH Terms

Conditions

Breast Neoplasms

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases

Central Study Contacts

Louise May THIBAUT, Medical Doctor

CONTACT

0231455050; lm.thibaut@baclesse.unicancer.fr

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 20, 2025
• First Posted: January 27, 2025
• Study Start: July 4, 2025
• Primary Completion (Estimated): July 15, 2027
• Study Completion (Estimated): December 30, 2027
• Last Updated: July 8, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)