Li-Fraumeni syndrome 1

Common Name(s)

Li-Fraumeni syndrome 1

Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. LFS is characterized by autosomal dominant inheritance and early onset of tumors, multiple tumors within an individual, and multiple affected family members. In contrast to other inherited cancer syndromes, which are predominantly characterized by site-specific cancers, LFS presents with a variety of tumor types. The most common types are soft tissue sarcomas and osteosarcomas, breast cancer, brain tumors, leukemia, and adrenocortical carcinoma. Classic LFS is defined as a proband with a sarcoma before the age of 45 years and a first-degree relative with any cancer before the age of 45 years and 1 additional first- or second-degree relative in the same lineage with any cancer before the age of 45 years or a sarcoma at any age ({27:Li et al., 1988}). Li-Fraumeni-like syndrome (LFL) is defined as a proband with any childhood cancer, or a sarcoma, brain tumor, or adrenocortical tumor before the age of 45 years, plus a first- or second-degree relative in the same lineage with a typical LFS tumor at any age, and an additional first- or second-degree relative in the same lineage with any cancer before the age of 60 years ({7:Birch et al., 1994}). A less restrictive definition of LFL is 2 different LFS-related tumors in first- or second-degree relatives at any age ({11:Eeles, 1995}). Approximately 70% of LFS cases and 40% of LFL cases contain germline mutations in the p53 gene on chromosome 17p13.1 ({1:Bachinski et al., 2005}). Genetic Heterogeneity of Li-Fraumeni Syndrome A second form of Li-Fraumeni syndrome (LFS2; {609265}) is caused by mutation in the CHEK2 gene ({604373}), and an LFS locus (LFS3; {609266}) has been mapped to chromosome 1q23.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Li-Fraumeni syndrome 1" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Li-Fraumeni syndrome 1" returned 1 free, full-text research articles on human participants. First 3 results:

Divergent control of Cav-1 expression in non-cancerous Li-Fraumeni syndrome and human cancer cell lines.
 

Author(s): Zaki A Sherif, Ahmed S Sultan

Journal: Cancer Biol. Ther.. 2013 Jan;14(1):29-38.

 

Li-Fraumeni syndrome (LFS) is primarily characterized by development of tumors exhibiting germ-line mutations in the p53 gene. Cell lines developed from patients of a LFS family have decreased p53 activity as evidenced by the absence of apoptosis upon etoposide treatment. To test ...

Last Updated: 9 Jan 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Li-Fraumeni syndrome 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer
 

Status: Recruiting

Condition Summary: Familial Ovarian Cancer; Familial Breast Cancer; BRCA1-associate Malignancies; BRCA2-associated Malignancies

 

Last Updated: 11 Nov 2014

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p53 and Response to Preoperative Radiotherapy for T2 and T3
 

Status: Recruiting

Condition Summary: Rectal Cancer

 

Last Updated: 14 May 2014

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Last Updated: 23 Aug 2013

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