Li-Fraumeni syndrome
From IDWiki
- 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
