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Disease Li-Fraumeni Syndrome

Name Li-Fraumeni Syndrome
Synonym Li Fraumeni Syndrome
Definition 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.
Categories Cancer | Genetic disease (inborn) | Metabolic disease
MeSH® ID D016864
External Links

Top ↑ Ancestors

1. DiseasesNeoplasms Has associated chemicals Has associated genes Has associated exposure references Neoplastic Syndromes, Hereditary Has associated chemicals Has associated genes Has associated exposure references Li-Fraumeni Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Neoplastic Syndromes, Hereditary Has associated chemicals Has associated genes Has associated exposure references Li-Fraumeni Syndrome Has associated chemicals Has associated genes
3. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references DNA Repair-Deficiency Disorders Has associated chemicals Has associated genes Li-Fraumeni Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Li-Fraumeni Syndrome Has associated chemicals Has associated genes
  Li-Fraumeni-Like Syndrome
  Li-Fraumeni Syndrome 2 Has associated chemicals Has associated genes
  Li-Fraumeni Syndrome 3
  Sarcoma family syndrome of Li and Fraumeni Has associated chemicals Has associated genes