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Topics in Cancer Genetics and Genetic Testing

  • In the videos below, Dana-Farber cancer genetics specialists provide answers to a variety of questions about specific genetic tests, interpreting test results, and genetic risk for cancer.

  • What is Panel Genetic Testing?
    Genetic counselor Jill Stopfer, MS, LGC, describes panel genetic testing: what it is, how it compares to other types of testing, and how it may help individuals who may be at risk for certain types of cancer based on their personal and family history.


  • What Are Germline and Somatic Mutations?
    Huma Rana, MD, Clinical Director of the Center for Cancer Genetics and Prevention describes the difference between germline and somatic mutations, and implications for cancer treatment.


  • What is Li-Fraumeni Syndrome?
    Judy Garber, MD, MPH, Director of the Center for Cancer Genetics and Prevention, describes Li-Fraumeni syndrome, a hereditary disorder that increases the risk of developing several types of cancer, and ways that individuals and families can manage this diagnosis.


  • What is a Variant of Uncertain Significance (VUS)?
    Genetics counselor Erica Vacarri describes what a VUS diagnosis means, and how this may or may not relate to risk for certain types of cancer.


  • What is Mosaicism?
    Genetics counselor Kathy Schneider, MPH, LGC, describes mosaicism, and how genetic counselors assess the risk for cancer for individuals found to have mosaicism.


  • Mosaicism vs. Circulating Tumor Cells
    Genetics counselor Kathy Schneider, MPH, LGC, describes the difference between mosaicism and circulating tumor cells.