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.

Also Known As:

Li Fraumeni Syndrome

Neoplasms: 1324753
- Hereditary Neoplastic Syndromes: 112
  - Li-Fraumeni Syndrome: 182
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Hereditary Neoplastic Syndromes: 112
    - Li-Fraumeni Syndrome: 182
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - DNA Repair-Deficiency Disorders: 538
    - Li-Fraumeni Syndrome: 182

Faye A Eggerding Selected Research

Faye A Eggerding Research Topics

Disease

Drug/Important Bio-Agent (IBA)