"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.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
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2000 | 1 | 0 | 1 |
2008 | 1 | 1 | 2 |
2011 | 0 | 1 | 1 |
2021 | 1 | 0 | 1 |
2023 | 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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Majhi PD, Sharma A, Jerry DJ. Genetic modifiers of p53: opportunities for breast cancer therapies. Oncotarget. 2023 03 24; 14:236-241.
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Majhi PD, Griner NB, Mayfield JA, Compton S, Kane JJ, Baptiste TA, Dunphy KA, Roberts AL, Schneider SS, Savage EM, Patel D, Blackburn AC, Maurus KJ, Wiesm?ller L, Jerry DJ. Genetic modifiers regulating DNA replication and double-strand break repair are associated with differences in mammary tumors in mouse models of Li-Fraumeni syndrome. Oncogene. 2021 08; 40(31):5026-5037.
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Tao L, Roberts AL, Dunphy KA, Bigelow C, Yan H, Jerry DJ. Repression of mammary stem/progenitor cells by p53 is mediated by Notch and separable from apoptotic activity. Stem Cells. 2011 Jan; 29(1):119-27.
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Dunphy KA, Blackburn AC, Yan H, O'Connell LR, Jerry DJ. Estrogen and progesterone induce persistent increases in p53-dependent apoptosis and suppress mammary tumors in BALB/c-Trp53+/- mice. Breast Cancer Res. 2008; 10(3):R43.
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Masciari S, Van den Abbeele AD, Diller LR, Rastarhuyeva I, Yap J, Schneider K, Digianni L, Li FP, Fraumeni JF, Syngal S, Garber JE. F18-fluorodeoxyglucose-positron emission tomography/computed tomography screening in Li-Fraumeni syndrome. JAMA. 2008 Mar 19; 299(11):1315-9.
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Kuperwasser C, Hurlbut GD, Kittrell FS, Dickinson ES, Laucirica R, Medina D, Naber SP, Jerry DJ. Development of spontaneous mammary tumors in BALB/c p53 heterozygous mice. A model for Li-Fraumeni syndrome. Am J Pathol. 2000 Dec; 157(6):2151-9.