Li-Fraumeni syndrome
Findings
No curated finding names Li-Fraumeni syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0018875), read 2026-09-29. CC BY 4.0.
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- NeoplasmHPOHP:0002664
- Very frequent (80% to 99% of cases)
- Breast carcinomaHPOHP:0003002
- Frequent (30% to 79% of cases)
- Adrenocortical carcinomaHPOHP:0006744
- Occasional (5% to 29% of cases)
- AstrocytomaHPOHP:0009592
- Occasional (5% to 29% of cases)
- Central primitive neuroectodermal tumorHPOHP:0030070
- Occasional (5% to 29% of cases)
- Choroid plexus carcinomaHPOHP:0030392
- Occasional (5% to 29% of cases)
- Colorectal polyposisHPOHP:0200063
- Occasional (5% to 29% of cases)
- EpendymomaHPOHP:0002888
- Occasional (5% to 29% of cases)
- Glioblastoma multiformeHPOHP:0012174
- Occasional (5% to 29% of cases)
- LeukemiaHPOHP:0001909
- Occasional (5% to 29% of cases)
- LymphomaHPOHP:0002665
- Occasional (5% to 29% of cases)
- Neoplasm of the central nervous systemHPOHP:0100006
- Occasional (5% to 29% of cases)
Show the remaining 23
- Neoplasm of the gastrointestinal tractHPOHP:0007378
- Occasional (5% to 29% of cases)
- OsteosarcomaHPOHP:0002669
- Occasional (5% to 29% of cases)
- RhabdomyosarcomaHPOHP:0002859
- Occasional (5% to 29% of cases)
- Stomach cancerHPOHP:0012126
- Occasional (5% to 29% of cases)
- Acute lymphoblastic leukemiaHPOHP:0006721
- Very rare (1% to 4% of cases)
- Acute myeloid leukemiaHPOHP:0004808
- Very rare (1% to 4% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TP53HGNC:11998
- Definitive · Ambry Genetics · Autosomal dominant · 2016
- Definitive · ClinGen · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- MDM2HGNC:6973
- Supportive · Orphanet · Autosomal dominant · 2025
Where it sits
Other names
8 names
Resolves to: Li-Fraumeni syndrome
- Also called
- LFSLi Fraumeni syndromeLi-Fraumeni familial cancer susceptibility syndromeLi-Fraumeni syndrome caused by mutation in TP53sarcoma, breast, leukemia and adrenal gland syndromeSBLA syndromeTP53 Li-Fraumeni syndromeTP53-related Li-Fraumeni syndrome