Li-Fraumeni Syndrome D016864

Diseases [C] » Neoplasms [C04] » Neoplastic Syndromes, Hereditary » Li-Fraumeni Syndrome

Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » DNA Repair-Deficiency Disorders » Li-Fraumeni Syndrome

Description

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.   MeSH

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