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Medical Subject Headings

Hae sanastosta

Sisällön kieli

Käsitteen tiedot

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

Käytettävä termi

Li-Fraumeni Syndrome  

Tyyppi

  • Topical Descriptor

Yläkäsite

Assosiatiiviset käsitteet

Käyttöhuomautus

  • 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.

Huomautus muutoshistoriasta

  • 92

Muunkieliset termit

URI

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

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RDF/XML TURTLE JSON-LD Luotu 21.6.1991, viimeksi muokattu 11.4.2022