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Li-Fraumeni Syndrome MeSH Descriptor Data 2023


MeSH Heading
Li-Fraumeni Syndrome
Tree Number(s)
C04.700.600
C16.320.700.600
C18.452.284.520
Unique ID
D016864
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D016864
Scope Note
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.
Previous Indexing
Neoplasms (1982-1986)
Neoplastic Syndromes, Hereditary (1987-1991)
Syndrome (1982-1986)
See Also
Genes, p53
Public MeSH Note
92
History Note
92
Date Established
1992/01/01
Date of Entry
1991/06/21
Revision Date
2018/06/29
Li-Fraumeni Syndrome Preferred
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