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ORPHA:524

Li-Fraumeni syndrome

low confidenceDisorder

Publications

10,048

Trials

7

Interventional, condition-specific

Researchers

1,354

Distinct authors in sample

Gene link

TP53

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

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.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (8)

LFS · Li Fraumeni syndrome · Li-Fraumeni familial cancer susceptibility syndrome · Li-Fraumeni syndrome caused by mutation in TP53 · SBLA syndrome · TP53 Li-Fraumeni syndrome · TP53-related Li-Fraumeni syndrome · sarcoma, breast, leukemia and adrenal gland syndrome

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — TP53

  2. LiteraturePresent

    10,048 matched papers (5,865 in last 10 years) Source

  3. Phenotype characterisedPresent

    47 HPO annotations (e.g. Colon cancer; Prostate neoplasm; Choriocarcinoma) Source

  4. Animal modelPresent

    10 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. adenoviral vector containing human p53 gene Source

  6. Interventional trialPresent

    7 matched on ClinicalTrials.gov (3 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (TP53).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

47

Associated phenotypes · MONDO:0018875

  • Colon cancer
  • Prostate neoplasm
  • Choriocarcinoma
  • Osteosarcoma
  • Nephroblastoma

Showing 5 of 47 — open Monarch for the full list.

Animal models (Monarch / Alliance)

10

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

1

Designation · no FDA orphan-indication approval yet

  • EMA adenoviral vector containing human p53 gene (Advexin; Advexin)Treatment of Li Fraumeni Syndrome · 23/10/2006 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

10,048

10,048 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

10,048 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

5,865 in the last 10 years · low confidence

Phrase hits: 10,048 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,354

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Kratz CP11 papers · 2026

    Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.

    Papers in Europe PMC
  2. 02
    Maxwell KN10 papers · 2026

    Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

    Papers in Europe PMC
  3. 03
    Hainaut P9 papers · 2026

    Institute for Advanced Biosciences, Université Grenoble Alpes, Inserm 1209, CNRS 5309, Grenoble, France.

    Papers in Europe PMC
  4. 04
    Malkin D9 papers · 2026

    Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.

    Papers in Europe PMC
  5. 05
    Bougeard G8 papers · 2026

    Univ Rouen Normandie, Inserm U1245, Normandie Univ, CHU Rouen, Department of Genetics, Rouen, France.

    Papers in Europe PMC
  6. 06
    Garber JE8 papers · 2026

    Dana-Farber Cancer Institute Boston, MA United States.

    Papers in Europe PMC
  7. 07
    Khincha PP8 papers · 2026

    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.

    Papers in Europe PMC
  8. 08
    Maese LD8 papers · 2026

    Huntsman Cancer Institute Salt Lake City, UT United States.

    Papers in Europe PMC
  9. 09
    Dutzmann CM6 papers · 2026

    Paediatric Haematology and Oncology, Hannover Medical School, Hannover, Germany.

    Papers in Europe PMC
  10. 10
    MacFarland SP6 papers · 2026

    Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

low confidence · 90.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

7 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

15 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (6)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Li-Fraumeni syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Li-Fraumeni syndrome" OR "Li Fraumeni syndrome" OR "Li-Fraumeni familial cancer susceptibility syndrome" OR "Li-Fraumeni syndrome caused by mutation in TP53" OR "SBLA syndrome" OR "TP53 Li-Fraumeni syndrome" OR "TP53-related Li-Fraumeni syndrome" OR "sarcoma, breast, leukemia and adrenal gland syndrome"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Li-Fraumeni syndrome" OR "Li Fraumeni syndrome" OR "Li-Fraumeni familial cancer susceptibility syndrome" OR "Li-Fraumeni syndrome caused by mutation in TP53" OR "SBLA syndrome" OR "TP53 Li-Fraumeni syndrome" OR "TP53-related Li-Fraumeni syndrome" OR "sarcoma, breast, leukemia and adrenal gland syndrome"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 7 interventional · 15 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LFS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (10048) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T14:11:29.647Z