Genetics and Heart Health after Cancer Therapy
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. We plan to enroll 100 BRCA1/2 mutation carriers who have been treated for breast cancer between 2005 and 2017. They will undergo comprehensive functional cardiovascular phenotyping (including biomarkers, echocardiogram, cardio-pulmonary exercise testing, and surveys) at enrollment and annually for five years. Additionally, our goal is to determine if human induced pluripotent stem cell lines (iPSC) from BRCA 1/2 carriers can be used to recapitulate the clinical CV phenotype, a subset of patients (n=10) will be asked to provide blood for the generation of iPSC lines.
- Study Identifier: 828385
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