 Li-Fraumeni Syndrome
"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
|
| MeSH Number(s) |
C04.700.600 C16.320.700.600 C18.452.284.520
|
| Concept/Terms |
|
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 UAMS Profiles by year, and whether "Li-Fraumeni Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2021 | 2 | 0 | 2 | | 2020 | 1 | 0 | 1 | | 2019 | 0 | 1 | 1 | | 1999 | 0 | 1 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Li-Fraumeni Syndrome" by people in Profiles over the past ten years.
-
Reed MR, Lyle AG, De Loose A, Maddukuri L, Learned K, Beale HC, Kephart ET, Cheney A, van den Bout A, Lee MP, Hundley KN, Smith AM, DesRochers TM, Vibat CRT, Gokden M, Salama S, Wardell CP, Eoff RL, Vaske OM, Rodriguez A. A Functional Precision Medicine Pipeline Combines Comparative Transcriptomics and Tumor Organoid Modeling to Identify Bespoke Treatment Strategies for Glioblastoma. Cells. 2021 12 02; 10(12).
-
Douglass DP, Stine KC, Farrar JE. A Novel Germline TP53 Mutation in a Patient With Li-Fraumeni Syndrome: Resolving a Variant of Uncertain Significance. J Pediatr Hematol Oncol. 2021 Nov 01; 43(8):e1220-e1222.
-
Cloutier JM, Shalin SC, Lindberg M, Gardner JM, Fernandez-Pol S, Zaba L, Novoa R, Brown RA. Cutaneous pleomorphic fibromas arising in patients with germline TP53 mutations. J Cutan Pathol. 2020 Aug; 47(8):734-741.
-
Mester JL, Jackson SA, Postula K, Stettner A, Solomon S, Bissonnette J, Murphy PD, Klein RT, Hruska KS. Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing. J Mol Diagn. 2020 03; 22(3):396-404.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|