Li-Fraumeni Syndrome Basics: Learning Li-Fraumeni Syndrome Ep. 1

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07/05/23

In this first episode of Learning Li-Fraumeni Syndrome, licensed genetic counselor Wendy Kohlmann answers many of the basic questions someone might have about Li-Fraumeni Syndrome, an inherited predisposition to developing cancer caused by a mutation of the TP53 gene.

1. What is Li-Fraumeni Syndrome?
2. Why would someone receive genetic testing for LFS? 
3. What if I decide against genetic testing for LFS? 
4. What is a variant of unknown significance or a variant of uncertain significance (VUS) in TP53? 
5. What is LFS-like? 
6. What is mosaicism in LFS? 
7. How do treatment options change with an LFS diagnosis? 
8. After diagnosis, how else can a genetic counselor help someone with LFS? 
9. What is Huntsman Cancer Institute’s cancer genetics study? 
10. What do elephants have to do with Li-Fraumeni Syndrome?
11. What other resources do you recommend?

Wendy Kohlmmann, MS, CGC is a certified genetic counselor at The University of Utah's Huntsman Cancer Institute. Visit http://www.huntsmancancer.org/ for more.

The Learning Li-Fraumeni Syndrome video and audio podcast is hosted by Andi Last and presented by Living LFS, a 501(c)3 nonprofit organization with the mission to encourage, empower, and educate those living with Li-Fraumeni Syndrome (LFS) by connecting them with care, resources, and others who are Living LFS. Learn more about us at www.livinglfs.org

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