Li-Fraumeni Syndrome
Recent clinical, regulatory, research and industry developments relating to this disease.
Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Leading journals1
- European journal of human genetics : EJHG1
Leading researchers5
- Bajalica Lagercrantz S1
- Evans DG1
- Frebourg T1
- Magenheim R1
- Oliveira C1
Affiliations (unnormalised)4
- Department of Clinical Genetics1
- i3S-Instituto de Investigação e Inovação em Saúde & Institute of Molecular Pathology and Immunology of the University of Porto1
- Manchester Centre for Genomic Medicine1
- Rouen University Hospital and Inserm U12451
Reference
Authoritative identity, definition & identifiers.
Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.