MEASUREMENT OF CIRCULATING MUTATION BURDEN (cRISK)

Centre Francois Baclesse

Status: Enrolling

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

Treatments: Genetic: Mutation Burden cfMB analysis

Study type: Observational

Funder types: Other

Identifiers

NCT06792721

2024-A02540-47

Details and patient eligibility

About

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

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

Enrollment: 30 estimated patients

Sex: Female

Ages: 30 to 50 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

30 participants in 2 patient groups

Case group

Description:

participant with a hereditary predisposition linked to a BRCA1/2 mutation (case)

Treatment:

Genetic: Mutation Burden cfMB analysis

Control group

Description:

participant not carrying a hereditary predisposition linked to a BRCA1/2 mutation (control) participant from the same sibling as the carrier participant (sister)

Treatment:

Genetic: Mutation Burden cfMB analysis