MEASUREMENT OF CIRCULATING MUTATION BURDEN
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Mutation Burden cfMB analysis.
- Who it may be relevant to
- Registry conditions: Breast Carcinoma, Genetic Predisposition to Cancer, BRCA Mutation, cfMB. Basic parameters: 30 years — 50 years · Female.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
EVALUATION OF CANCER RISK BY MEASUREMENT OF CIRCULATING MUTATIONAL BURDEN IN CARRIERS OF A GENETIC PREDISPOSITION
Overview
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
Interventions
- Genetic Mutation Burden cfMB analysis
Blood samples will be collected (one time only)
Primary outcome measures
- 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)]
Secondary outcome measures (2)
- Mutation profiling, COSMIC-type signature generation [Time frame: 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)]
Eligibility criteria
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
\-
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Family-based
Study locations
France · 1 center
- Centre François Baclesse — Caen
Identifiers
NCT: NCT06792721 · 2024-A02540-47