Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Cancer-free women with a hereditary predisposition to breast and/or ovarian cancer
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:
Blood tests will evaluate the Mutation Burden cfMB
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Case group | participant with a hereditary predisposition linked to a BRCA1/2 mutation (case) |
| |
| 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) |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Mutation Burden cfMB analysis | Genetic | Blood samples will be collected (one time only) |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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) |
| Measure | Description | Time Frame |
|---|---|---|
| Mutation profiling, COSMIC-type signature generation | 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 |
Not provided
Inclusion Criteria:
Exclusion Criteria:
-
Not provided
Not provided
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).
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Louise May THIBAUT, Medical Doctor | Contact | 0231455050 | lm.thibaut@baclesse.unicancer.fr |
Not provided
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre François Baclesse | Recruiting | Caen | France | France |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D001943 | Breast Neoplasms |
| ID | Term |
|---|---|
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D001941 | Breast Diseases |
| D012871 | Skin Diseases |
Not provided
Not provided
Not provided
Not provided
Not provided
Blood samples will be collected for mutation Burden cfMB analysis
Study of epigenetic biomarkers, such as circulating histone methylation |
| At the enrollment in the study (one point) |
| D017437 |
| Skin and Connective Tissue Diseases |