BRCA Mutation, Breast Carcinoma, cfMB, Genetic Predisposition to Cancer, Mutation Burden
Conditions
Keywords
cfMB, predisposition to cancer, BRCA1, BRCA2, breast cancer
Brief summary
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
GENETICMutation Burden cfMB analysis
Blood samples will be collected (one time only)
Sponsors
Centre Francois Baclesse
Study design
Observational model
FAMILY_BASED
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
30 Years to 50 Years
Healthy volunteers
Yes
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
\-
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Comparing the mutational burden in a person genetically predisposed to cancer with that of a non-predisposed relative | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Identify and evaluate complementary or alternative molecular signatures | At the enrollment in the study (one point) | Study of epigenetic biomarkers, such as circulating histone methylation |
| Mutation profiling, COSMIC-type signature generation | 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 |
Countries
France
Contacts
Primary ContactLouise May THIBAUT, Medical Doctor
Outcome results
None listed