Breast Cancer, Drug-Induced Cardiomyopathy, Heart Diseases, Hereditary Breast/Ovarian Cancer (brca1, Brca2)
Conditions
Keywords
Cardio-oncology
Brief summary
The overall objective of this study is to use patient-centered in vitro and in vivo models to answer the fundamental question of whether or not pathogenic mutations in BRCA1/2 result in an increased risk of CV disease
Interventions
DIAGNOSTIC_TESTechocardiography
Resting echocardiograms (Vivid E9 or E95, GE Healthcare) with conventional measures of systolic and diastolic function, in conjunction with posthoc quantitation of novel measures of strain and strain rate will be obtained at each study time point.
OTHERCardiopulmonary Exercise Testing
A cardiopulmonary exercise test (CPET, also called V02 test) will be completed at each study time point utilizing a standard clinical protocol, on either a stationary bike or treadmill. The purpose of this test is to estimate maximal oxygen consumption (V02 max) as in index of cardiopulmonary fitness. Resting ECG, heart rate, and BP will be obtained prior to beginning the test, during each stage of the test and for 5 minutes after the test is stopped.
OTHERBlood Collection
We will obtain blood samples (approximately 16mL) at baseline and (approximately 12mL) at each follow-up visit. Typically these will be drawn via peripheral venipuncture, however if patients have a port-a-cath in place, blood may be drawn from the port instead.
Sponsors
Abramson Cancer Center at Penn Medicine
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* ≥18 years of age * Initial diagnosis of Breast Cancer in 2005 or later * Documented BRCA testing (results from a local laboratory are acceptable) showing * confirmation of a germline mutation in BRCA1 or BRCA2 that is predicted or suspected to be deleterious OR * confirmation that no mutation was detected in BRCA1 or BRCA2 * Non-carriers will have been treated with an anthracycline-based chemotherapy regimen; carriers may or may not have been treated with an anthracycline-based chemotherapy regimen. * Approximately at least 12 months from initiation of adjuvant treatment or neo-adjuvant chemotherapy * Able to provide informed consent
Exclusion criteria
* Stage IV Breast Cancer * Genetic testing confirming a variant of unknown significance (VUS) or benign polymorphism in BRCA1 or BRCA2 * V02 Testing contraindicated for any reason, including: * Myocardial infarction (within past 3 months) * High-risk unstable angina; * High-risk or uncontrolled cardiac arrhythmias; * Symptomatic severe aortic stenosis; * Uncontrolled symptomatic heart failure; * Acute pulmonary embolus or pulmonary infarction; * Acute myocarditis or pericarditis; * Acute aortic dissection; * Coronary revascularization procedure within the past three months; * Uncontrolled hypertension, defined as systolic blood pressure ≥ 180mmHg or diastolic blood pressure ≥ 100mmHg; * Clinically significant valvular heart disease (severe stenosis or regurgitation); * Known aortic aneurysm; or * Any other condition which, in the opinion of the investigator, may impede testing of the study hypothesis or make it unsafe to engage in the V02 test * Women who are pregnant * Any other clinically significant medical disease or condition that, in the investigator's opinion, may interfere with protocol adherence or a subject's ability to give informed consent
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Left Ventricular Ejection Fraction | 6 years |
Countries
United States
Outcome results
None listed