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Li-Fraumeni Syndrome LFS Spectrum: Different Presentations of TP53 Variants & Mosaics

As Li-Fraumeni syndrome (LFS) research has progressed, so too has our understanding of this key genetic cancer predisposition. What is Li-Fraumeni syndrome? What does the new LFS spectrum classification mean for individuals and for cancer research? What are the different presentations of the TP53 gene variants and mosaics? On Li-Fraumeni Syndrome Awareness Day, March 20, 2023, genetic counselors Jaclyn Schienda ScM, CGC (Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Living LFS Medical Advisory Chair) and Carly Grant, MS, CGC (Massachusetts General Hospital Center for Cancer Risk Assessment) explained the Li-Fraumeni syndrome spectrum in plain English and answered attendee questions about cancer genetics. 00:00 - Intro 1:06 - Genetics 101 6:57 - TP53 gene mutations and the p53 protein 8:18 - History of LFS, diagnosis and testing 12:10 - New LFS spectrum classification system 23:10 - Mosaicism in LFS 27:29 - Next steps 29:35 - Attendee Question and Answer Session 55:27 - LFS Awareness Day Activities and thank you!