Li Fraumeni Syndrome

Question 1

What is the classical definition of Li-Fraumeni syndrome?

Answer 1

All of the following:

1. A proband with a sarcoma diagnosis <45yo
2. First degree relative with any cancer <45yo
3. A first or second degree relative with any cancer before age 45yo

Question 2

What are the clinical characteristics of Li-Fraumeni syndrome?

Answer 2

Cancer predisposition syndrome associated with following classic tumors:

1. ST sarcoma
2. Osteosarcoma
3. Pre-menopausal breast cancer
4. Brain tumors
5. Adrenocortical carcinoma
6. Leukemia

Question 3

What gene is associated with LFS?

Answer 3

TP53

Question 4

What is the inheritance pattern of LFS?

Answer 4

AD