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Medical Subject Headings

Oza sátnerájus

Sisdoalu giella

Diehtu doahpagis

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

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Li-Fraumeni Syndrome  

Tiipa

  • Topical Descriptor

Badjedoaba

Assosiatiiva doahpagat

Fuomášahttin

  • 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.

Fuomášahttin rievdadanhistorjjás

  • 92

Eará gielain

URI

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

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RDF/XML TURTLE JSON-LD Ráhkaduvvon 6/21/91, maŋimuš rievdaduvvon 6/25/24