THIRD EDITION
Factsheet
Condition:
Li-Fraumeni syndrome
Inheritance:
Autosomal dominant
Genetic Etiology:
Mutation in the TP53 tumor suppressor gene.
Frequency:
Rare
Clinical features:
Cancers involving multiple sites, including soft tissue sarcoma, osteosarcoma, breast cancer, gastrointestinal tract, pancrease, glioma, melanoma, and leukemia.
Management:
Symptomatic treatment and surveillance for development of cancer.
Genetic counseling:
Risk of transmission is 50%, with high penetrance for eventual development of cancer. Genetic testing is available.