: MeSH: Li-Fraumeni Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Neoplastic Syndromes, Hereditary > Li-Fraumeni Syndrome

Neoplasms > Neoplastic Syndromes, Hereditary > Li-Fraumeni Syndrome

Nutritional and Metabolic Diseases > Metabolic Diseases > DNA Repair-Deficiency Disorders > Li-Fraumeni Syndrome

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.

http://data.loterre.fr/ark:/67375/JVR-JG6HVVK8-P

RDF/XML TURTLE JSON-LD Date de création 21/06/1991, dernière modification le 29/06/2018

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