Li-Fraumeni syndrome


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Li-Fraumeni syndrome

SBLA syndrome An AD condition with ↑ risk of multiple malignancies––eg, sarcomas, carcinomas of adrenal cortex, breast, larynx and lung, brain tumors, leukemia and lymphomas at any time from infancy to adulthood, due to a defect in the p53 tumor suppressor gene
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

Li-Fraumeni syndrome

[Fredrick Pei Li, Chinese-born U.S. epidemiologist, b. 1940; Joseph F. Fraumeni, Jr., U.S. epidemiologist, b. 1933]
An inherited condition in which individuals develop multiple primary tumors, including breast cancer, osteosarcoma, chondrosarcoma, soft tissue sarcoma, brain tumors, adrenal cortex tumors, etc. Mutations of the p53 gene on chromosome 17 are responsible for this disease.
Medical Dictionary, © 2009 Farlex and Partners
References in periodicals archive ?
Li-Fraumeni Syndrome cells that died from DNA damage, or pre-cancer.
Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome. Hum Mutat 2014; 35: 654-662, doi: 10.1002/humu.22559.
3 During data collection, we came across a family belonging to Multan having Li-Fraumeni syndrome (LFS) like characteristics (Fig.
Li-Fraumeni syndrome (LFS): A diagnosis of a soft-tissue sarcoma in a patient younger than 45 who has at least two first-degree relatives with any type of cancer that was diagnosed before age 45.
The present study has evaluated endoscopic ultrasound (EUS) for screening in high-risk individuals: 13 with FAMMM families, 21 with familial pancreatic cancer, three with hereditary pancreatitis, two with Peutz-Jeghers syndrome, five with BRCA1 and BRCA2 mutations and one Li-Fraumeni syndrome. Twentythree per cent of them showed anomalies on EUS.
>3 affected relatives); LFS, Li-Fraumeni syndrome; RR, relative risk.
Li-Fraumeni syndrome, Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome or you have a first-degree relative with one of these syndromesLobular carcinoma in situ (LCIS), is not a true cancer, though it may be a marker for later cancer risk.
The 1100delC mutation in exon 10 abolishes the kinase function of CHEK2 (5) and has been reported in patients with Li-Fraumeni syndrome in the United States and in Finnish families with a cancer phenotype suggestive of Li-Fraumeni syndrome, including breast cancer (5).
In Li-Fraumeni syndrome, there seems to be a family clustering of multiple malignancies, including pediatric sarcomas, breast cancer, leukemias, brain tumors, and adrenocortical carcinomas (Frebourg, Barbier, & Yan, 1995; Li & Fraumeni, 1969).
Persons with a heterozygous gene for ataxia telangectasia (53), or carrying a gene for Li-Fraumeni syndrome (54) are examples of susceptible populations.
"Breast Cancer Gene Found," trumpeted some of the headings of news stories on the development, "Screening Test Available Soon." But at the time, scientists could only speculate that the same gene underlies cases of breast cancer in families without a history of the unusual disease, called Li-Fraumeni syndrome (SN: 12/1/90, p.342).
Individuals who have germline mutations in TP53 have Li-Fraumeni syndrome. Li-Fraumeni syndrome is rare, with approximately 400 known families.