 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
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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 |
|---|
| 2007 | 1 | 0 | 1 | | 2010 | 0 | 1 | 1 | | 2017 | 2 | 0 | 2 | | 2019 | 2 | 0 | 2 | | 2021 | 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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Jeffers JR, Pinto EM, Rehg JE, Clay MR, Wang J, Neale G, Heath RJ, Lozano G, Lalli E, Figueiredo BC, Pappo AS, Rodriguez-Galindo C, Chen W, Pounds S, Ribeiro RC, Zambetti GP. The Common Germline TP53-R337H Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model. Cancer Res. 2021 05 01; 81(9):2442-2456.
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Sloan EA, Hilz S, Gupta R, Cadwell C, Ramani B, Hofmann J, Kline CN, Banerjee A, Reddy A, Oberheim Bush NA, Chang S, Braunstein S, Chang EF, Raffel C, Gupta N, Sun PP, Kim JYH, Moes G, Alva E, Li R, Bruggers CS, Alashari M, Wetmore C, Garg S, Dishop M, Van Ziffle J, Onodera C, Devine P, Grenert JP, Lee JC, Phillips JJ, Pekmezci M, Tihan T, Bollen AW, Berger MS, Costello JF, Perry A, Solomon DA. Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features. Acta Neuropathol. 2020 05; 139(5):953-957.
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Orr BA, Clay MR, Pinto EM, Kesserwan C. An update on the central nervous system manifestations of Li-Fraumeni syndrome. Acta Neuropathol. 2020 04; 139(4):669-687.
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Francom CR, Leoniak SM, Lovell MA, Herrmann BW. Head and neck pleomorphic myxoid liposarcoma in a child with Li-Fraumeni syndrome. Int J Pediatr Otorhinolaryngol. 2019 Aug; 123:191-194.
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McEvoy M, Robison N, Manley P, Yock T, Konopka K, Brown RE, Wolff J, Green AL. Successful Treatment of Recurrent Li-Fraumeni Syndrome-related Choroid Plexus Carcinoma. J Pediatr Hematol Oncol. 2017 11; 39(8):e473-e475.
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Porter CC, Druley TE, Erez A, Kuiper RP, Onel K, Schiffman JD, Wolfe Schneider K, Scollon SR, Scott HS, Strong LC, Walsh MF, Nichols KE. Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions. Clin Cancer Res. 2017 Jun 01; 23(11):e14-e22.
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Henry E, Villalobos V, Million L, Jensen KC, West R, Ganjoo K, Lebensohn A, Ford JM, Telli ML. Chest wall leiomyosarcoma after breast-conservative therapy for early-stage breast cancer in a young woman with Li-Fraumeni syndrome. J Natl Compr Canc Netw. 2012 Aug; 10(8):939-42.
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Mouchawar J, Korch C, Byers T, Pitts TM, Li E, McCredie MR, Giles GG, Hopper JL, Southey MC. Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study. Cancer Res. 2010 Jun 15; 70(12):4795-800.
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Bemis LT, Robinson WA, McFarlane R, Buyers E, Kelly K, Varella-Garcia M, Mitchell JD, Franklin WA. EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome. Lancet Oncol. 2007 Jun; 8(6):559-60.
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Lang GA, Iwakuma T, Suh YA, Liu G, Rao VA, Parant JM, Valentin-Vega YA, Terzian T, Caldwell LC, Strong LC, El-Naggar AK, Lozano G. Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome. Cell. 2004 Dec 17; 119(6):861-72.
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