The Link Between BRCA Mutation and Endothelial Function

Study Overview
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Brief Summary
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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.

Official Title
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The Link Between BRCA Mutation and Endothelial Function - A Pilot Study

Conditions
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BRCA1 Gene Mutation, BRCA2 Gene Mutation

Intervention / Treatment
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* Other: Endothelial function assessment
* Other: Cardiovascular biomarkers
* Other: Endothelial cells


Participation Criteria
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Eligibility Criteria
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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)

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 70 Years

Sexes Eligible for Study
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Male

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Screening
Allocation: Non-Randomized
Intervention Model: Crossover Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: male BRCA mutations carriers<br>Endothelial function assessment and Cardiovascular biomarkers | Other: Endothelial function assessment<br>* reactive hyperemia index<br>Other: Cardiovascular biomarkers<br>* 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)<br>Other: Endothelial cells<br>* Endothelial Progenitor Cells and Circulating Endothelial Cells profiles- will be characterized to evaluate endothelial injury.<br>|
| Other: healthy males - control group<br>Endothelial function assessment and Cardiovascular biomarkers | Other: Endothelial function assessment<br>* reactive hyperemia index<br>Other: Cardiovascular biomarkers<br>* 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)<br>Other: Endothelial cells<br>* Endothelial Progenitor Cells and Circulating Endothelial Cells profiles- will be characterized to evaluate endothelial injury.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| reactive hyperemia index will be assessed using the Endo-PAT2000 | will be assessed using the Endo-PAT2000 | at baseline | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| The level of high sensitivity troponin (hsTn) - a cardiovascular risk biomarker will be measured | high sensitivity troponin (hsTn) | at baseline | 
| The level of C-reactive protein - a cardiovascular risk biomarker will be measured | C-reactive protein | at baseline | 
| The level of D-dimer - a cardiovascular risk biomarker will be measured | D-dimer | at baseline | 
| The level of N-terminal pro-brain natriuretic peptide (NT-proBNP) - a cardiovascular risk biomarker will be measured | N-terminal pro-brain natriuretic peptide (NT-proBNP) | at baseline | 
| Endothelial Progenitor Cells profile (EPC) - will be characterized to evaluate endothelial injury. | Endothelial Progenitor Cells (EPC) | at baseline | 
| Circulating Endothelial Cells profile (CEC) - will be characterized to evaluate endothelial injury. | Circulating Endothelial Cells (CEC) | at baseline |