Li Fraumeni Syndrome Flashcards
1
Q
What is the classical definition of Li-Fraumeni syndrome?
A
All of the following:
- A proband with a sarcoma diagnosis <45yo
- First degree relative with any cancer <45yo
- A first or second degree relative with any cancer before age 45yo
2
Q
What are the clinical characteristics of Li-Fraumeni syndrome?
A
Cancer predisposition syndrome associated with following classic tumors:
- ST sarcoma
- Osteosarcoma
- Pre-menopausal breast cancer
- Brain tumors
- Adrenocortical carcinoma
- Leukemia
3
Q
What gene is associated with LFS?
A
TP53
4
Q
What is the inheritance pattern of LFS?
A
AD