Li-Fraumeni Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant cancer predisposition syndrome caused by germline mutations of the TP53 gene. It is associated with breast carcinoma, choroid plexus carcinoma, adrenal cortex carcinoma, astrocytic tumors, medulloblastoma, soft tissue sarcoma, osteosarcoma, and leukemia.

**Synonyms:** - Li-Fraumeni - Li-Fraumeni Familial Cancer Susceptibility Syndrome - Li-Fraumeni Syndrome, TP53-Associated - Li-Fraumeni syndrome - TP53-Associated Li-Fraumeni Syndrome