Li-Fraumeni Syndrome (LFS) Flashcards
1
Q
What percentage of LFS is associated with a mutation of p53?
A
70%
2
Q
What is the diagnostic criteria for LFS?
A
- probing with a sarcoma diagnosed before 45 AND
- first degree relative with any cancer under 45 years of age AND
- a first or second degree relative with any cancer under 45 years of age or a sarcoma at any age
3
Q
How is testing conducted for LFS or LFL?
A
next generation sequencing panels that include many cancer related genes