Li-Fraumeni syndrome
Li-Fraumeni syndrome
Definition
An autosomal dominant cancer predisposition disorder caused by pathogenic variants in the TP53 gene, characterized by an increased risk of a wide range of cancers, including but not limited to breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenocortical carcinoma and leukemias.
Also known as LFS, Li Fraumeni syndrome, Li-Fraumeni familial cancer susceptibility syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome caused by mutation in TP53, sarcoma, breast, leukemia and adrenal gland syndrome, SBLA syndrome, TP53 Li-Fraumeni syndrome, TP53-related Li-Fraumeni syndrome — per MONDO