"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
|
| 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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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2017 | 2 | 0 | 2 |
| 2018 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Li-Fraumeni Syndrome" by people in Profiles.
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Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic. Hum Mutat. 2019 06; 40(6):832-833.
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Please Test My Child for a Cancer Gene, but Don't Tell Her. Pediatrics. 2018 04; 141(4).
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Screening with whole-body magnetic resonance imaging in pediatric subjects with Li-Fraumeni syndrome: A single institution pilot study. Pediatr Blood Cancer. 2018 Feb; 65(2).
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Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome. JAMA Oncol. 2017 Oct 01; 3(10):1400-1402.