Diseases

Li-Fraumeni Syndrome

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

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See Also

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Synonyms

1 entry terms
  • Li Fraumeni Syndrome

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

92

MeSH Record

Previous Indexing

  • Neoplasms (1982-1986)
  • Neoplastic Syndromes, Hereditary (1987-1991)
  • Syndrome (1982-1986)

MeSH Hierarchy

Tree Numbers

  1. C04w.700w.600w
  2. C16w.320w.700w.600w
  3. C18.452w.284w.520w

AMA Style

References

  1. National Library of Medicine. Li-Fraumeni Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D016864. http://id.nlm.nih.gov/mesh/2026/D016864
  2. Li-Fraumeni Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome
  3. Li-Fraumeni Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q187542