Li-Fraumeni

Question 1

What causes Li-Fraumeni Syndrome?

Answer 1

Abnormalities in p53 cause multiple malignancies at early age. AKA SBLA cancer syndrome (Sarcoma, breast, leukemia, adrenal gland)

It is an Autosomal Dominant disease

Question 2

What are the criteria for diagnosing LFS?

Answer 2

1. Patient with sarcoma before 45
2. 1st degree rel w cancer under 45
3. Another cousin or closer with cancer under 45 or sarcoma at any age

Use Next Gen to sequence

Question 3

Which 3 phases/pathways does p53 regulate?

Answer 3

S phase- negative regulation
M phase- negative regulation
Apoptosis induction