Genetics and Heart Health after Cancer Therapy

  • STATUS
    Recruiting
  • participants needed
    80
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Updated on 19 February 2024

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. 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.

Details
Condition genetics, cancer
Age 99years or below
Clinical Study IdentifierTBD
Last Modified on19 February 2024

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