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Li-Fraumeni syndrome
rareAn 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.
- Identifiers
- MONDO:0018875 OMIM:151623OMIM:609266Orphanet:524
- Causal genes
- TP53
- Also known as
- LFS · LFS1 · LFS3 · Li Fraumeni syndrome · Li-Fraumeni familial cancer susceptibility syndrome
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