"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 this website 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 |
|---|
| 1998 | 1 | 0 | 1 |
| 2002 | 1 | 0 | 1 |
| 2004 | 1 | 0 | 1 |
| 2005 | 1 | 0 | 1 |
| 2006 | 2 | 0 | 2 |
| 2008 | 1 | 0 | 1 |
| 2011 | 2 | 0 | 2 |
| 2012 | 0 | 1 | 1 |
| 2013 | 1 | 1 | 2 |
| 2014 | 2 | 0 | 2 |
| 2015 | 0 | 1 | 1 |
| 2017 | 4 | 0 | 4 |
| 2019 | 3 | 1 | 4 |
| 2020 | 3 | 0 | 3 |
| 2021 | 1 | 0 | 1 |
| 2022 | 2 | 0 | 2 |
| 2023 | 3 | 0 | 3 |
| 2024 | 1 | 0 | 1 |
| 2025 | 1 | 1 | 2 |
To return to the timeline,
click here.
Below are the most recent publications written about "Li-Fraumeni Syndrome" by people in Profiles.
-
Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. Clin Cancer Res. 2025 May 15; 31(10):1831-1840.
-
Cancer Predisposition Syndromes Associated with Most Common Pediatric Solid Tumors. Surg Pathol Clin. 2025 Jun; 18(2):359-369.
-
Clinical management of TP53 mosaic variants found on germline genetic testing. Cancer Genet. 2024 Jun; 284-285:43-47.
-
Rates of Intervention and Cancer Detection on Initial versus Subsequent Whole-body MRI Screening in Li-Fraumeni Syndrome. Cancer Prev Res (Phila). 2023 09 01; 16(9):507-512.
-
Dimeric p53 Mutant Elicits Unique Tumor-Suppressive Activities through an Altered Metabolic Program. Cancer Discov. 2023 05 04; 13(5):1230-1249.
-
Rewired m6A epitranscriptomic networks link mutant p53 to neoplastic transformation. Nat Commun. 2023 03 27; 14(1):1694.
-
Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional TP53 Status. Cancer Epidemiol Biomarkers Prev. 2022 08 02; 31(8):1621-1629.
-
Evolution of germline TP53 variant classification in children with cancer. Cancer Genet. 2022 06; 264-265:29-32.
-
Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. J Natl Cancer Inst. 2021 07 01; 113(7):875-883.
-
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Hum Mutat. 2021 03; 42(3):223-236.