BRCA1 Gene Mutation, BRCA2 Gene Mutation
Conditions
Brief summary
This study evaluates the effect of BRCA1&2 mutations on cardiovascular diseases by to comparing the endothelial function of male BRCA mutation carriers with that of age matched non-BRCA mutation carriers.
Interventions
OTHEREndothelial function assessment
reactive hyperemia index
OTHERCardiovascular biomarkers
Cardiovascular biomarkers will be measure to test other aspects of endothelial and cardiac function: high-sensitivity troponin (hsTn) , C-reactive protein , D-dimer, N-terminal pro-brain natriuretic peptide (NT-proBNP)
OTHEREndothelial cells
Endothelial Progenitor Cells and Circulating Endothelial Cells profiles- will be characterized to evaluate endothelial injury.
Sponsors
Rabin Medical Center
Study design
Allocation
NON_RANDOMIZED
Intervention model
CROSSOVER
Primary purpose
SCREENING
Masking
NONE
Eligibility
Sex/Gender
MALE
Age
18 Years to 70 Years
Healthy volunteers
Yes
Inclusion criteria
* Known carrier or non-carrier, confirmed by genetic testing of BRCA 1/2 mutation * Able and willing to sign an informed consent
Exclusion criteria
* History of, or current, malignancy * History of: * Myocardial infarction * Ischemic or Hemorrhagic cerebrovascular conditions * Arterial embolic and thrombotic events * Ischemic heart disease * Prior coronary artery or ilio-femoral artery revascularization (percutaneous or surgical procedures) * Peripheral vascular disease (e.g. claudication, prior vascular surgery/intervention)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| reactive hyperemia index will be assessed using the Endo-PAT2000 | at baseline | will be assessed using the Endo-PAT2000 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| The level of C-reactive protein - a cardiovascular risk biomarker will be measured | at baseline | C-reactive protein |
| The level of D-dimer - a cardiovascular risk biomarker will be measured | at baseline | D-dimer |
| The level of high sensitivity troponin (hsTn) - a cardiovascular risk biomarker will be measured | at baseline | high sensitivity troponin (hsTn) |
| Endothelial Progenitor Cells profile (EPC) - will be characterized to evaluate endothelial injury. | at baseline | Endothelial Progenitor Cells (EPC) |
| Circulating Endothelial Cells profile (CEC) - will be characterized to evaluate endothelial injury. | at baseline | Circulating Endothelial Cells (CEC) |
| The level of N-terminal pro-brain natriuretic peptide (NT-proBNP) - a cardiovascular risk biomarker will be measured | at baseline | N-terminal pro-brain natriuretic peptide (NT-proBNP) |
Countries
Israel
Contacts
Primary ContactDavid Margel, MD, PhD
Outcome results
None listed