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Start free with EleplanLi-Fraumeni syndrome
ORPHA:524Disease
What it is
A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers.
Key facts
- Prevalence
- 1-9 / 100 000 (United Kingdom)
- Age of onset
- All ages
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Sometimes5–29%
14- Adrenocortical carcinoma
- Astrocytoma
- Central primitive neuroectodermal tumor
- Choroid plexus carcinoma
- Colorectal polyposis
- Ependymoma
- Glioblastoma multiforme
- Leukemia
and 6 more in this range
Rare1–4%
19- Acute lymphoblastic leukemia
- Acute myeloid leukemia
- Choriocarcinoma
- Colon cancer
- Hodgkin lymphoma
- Medulloblastoma
- Melanoma
- Myelodysplasia
and 11 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
1 modifying gene — variants that can change how the disease behaves, not cause it
ICD-10 codes
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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