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Begreppsinformation

Nutritional and Metabolic Diseases > Metabolic Diseases > DNA Repair-Deficiency Disorders > Li-Fraumeni Syndrome
Neoplasms > Neoplastic Syndromes, Hereditary > Li-Fraumeni Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Neoplastic Syndromes, Hereditary > Li-Fraumeni Syndrome

Föredragen term

Li-Fraumeni Syndrome  

Typ

  • Topical Descriptor

Överordnat begrepp

Relaterade begrepp

Användningsanmärkning

  • 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.

Anmärkning om ändringshistoria

  • 92

Termer på andra språk

URI

http://www.yso.fi/onto/mesh/D016864

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RDF/XML TURTLE JSON-LD Skapad 1991-06-21, senast editerad 2024-06-25