Li-Fraumeni syndrome

• Genetic autosomal dominant hereditary disorder that increases risk of various malignancies
• Also called SBLA (sarcoma, breast, leukemia, and adrenal) syndrome
• Caused by mutations in the TP53 tumour suppressor gene
• Associated cancers:
  • Early-onset breast cancer (25%)
  • Soft-tissue sarcoma (20%)
  • Bone sarcoma (15%)
  • Brain tumours, particularly glioblastomas (13%)
  • Others: leukemia, lymphoma, and adrenal carcinoma