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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.

Year introduced: 1992

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Tree Number(s): C04.700.600, C16.320.700.600, C18.452.284.520

MeSH Unique ID: D016864

Entry Terms:

  • Li Fraumeni Syndrome

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