"Li-Fraumeni Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D016864
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| MeSH Number(s) |
C04.700.600 C16.320.700.600 C18.452.284.520
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Li-Fraumeni Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Li-Fraumeni Syndrome".
This graph shows the total number of publications written about "Li-Fraumeni Syndrome" by people in this website by year, and whether "Li-Fraumeni Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2018 | 0 | 1 | 1 |
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Below are the most recent publications written about "Li-Fraumeni Syndrome" by people in Profiles.
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Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies. Blood Adv. 2018 01 23; 2(2):146-150.
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The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds. Fam Cancer. 2005; 4(2):177-81.