Li Fraumeni syndrome

Common Name(s)

Li Fraumeni syndrome

Li-Fraumeni syndrome is a condition that greatly increases a person's likelihood of developing cancer, particularly at an unusually young age. Affected individuals also have an increased likelihood to develop more than one cancer during the lifetime. Cancers most often associated with Li-Fraumeni syndrome include sarcomas (cancers of muscle, bone or connective tissue), breast cancer, brain tumors, and cancer of the adrenal gland (adrenocortical carcinoma), though there may be an increased risk to develop other types of cancer as well. This condition is caused by mutations in the TP53 gene and is inherited in an autosomal dominant manner.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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" returned 73 free, full-text research articles on human participants. First 3 results:

A case of late-onset Li-Fraumeni-like syndrome with unilateral breast cancer.
 

Author(s): Yonggeun Cho, Juwon Kim, Yoonjung Kim, Joon Jeong, Kyung-A Lee

Journal: Ann Lab Med. 2013 May;33(3):212-6.

 

Li-Fraumeni syndrome (LFS) is a rare, inherited syndrome associated with increased risk of various early-onset tumors. Since the introduction of classic LFS criteria, various criteria have been proposed to include patients with incomplete LFS features, which make up Li-Fraumeni-like ...

Last Updated: 13 May 2013

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Increased oxidative metabolism in the Li-Fraumeni syndrome.
 

Author(s): Ping-Yuan Wang, Wenzhe Ma, Joon-Young Park, Francesco S Celi, Ross Arena, Jeong W Choi, Qais A Ali, Dotti J Tripodi, Jie Zhuang, Cory U Lago, Louise C Strong, S Lalith Talagala, Robert S Balaban, Ju-Gyeong Kang, Paul M Hwang

Journal: N. Engl. J. Med.. 2013 Mar;368(11):1027-32.

 

There is growing evidence that alterations in metabolism may contribute to tumorigenesis. Here, we report on members of families with the Li-Fraumeni syndrome who carry germline mutations in TP53, the gene encoding the tumor-suppressor protein p53. As compared with family members ...

Last Updated: 14 Mar 2013

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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" returned 5 free, full-text review articles on human participants. First 3 results:

Tumor protein p53 (TP53) testing and Li-Fraumeni syndrome : current status of clinical applications and future directions.
 

Author(s): April D Sorrell, Carin R Espenschied, Julie O Culver, Jeffrey N Weitzel

Journal: Mol Diagn Ther. 2013 Feb;17(1):31-47.

 

Prevalent as an acquired abnormality in cancer, the role of tumor protein p53 (TP53) as a germline mutation continues to evolve. The clinical impact of a germline TP53 mutation is often dramatic and affects the full life course, with a propensity to develop rare tumors in childhood ...

Last Updated: 6 Feb 2013

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Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature.
 

Author(s): Karin Kast, Mechthild Krause, Markus Schuler, Katrin Friedrich, Barbara Thamm, Andrea Bier, Wolfgang Distler, Stefan Kr├╝ger

Journal:

 

Li-Fraumeni-Syndrome (LFS) is an autosomal-dominant, inherited tumour predisposition syndrome associated with heterozygous germline mutations in the TP53 gene. Patients with LFS are at a high risk to develop early-onset breast cancer and multiple malignancies, among which sarcomas ...

Last Updated: 2 Nov 2012

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Risk stratification in cancer predisposition syndromes: lessons learned from novel molecular developments in Li-Fraumeni syndrome.
 

Author(s): Uri Tabori, David Malkin

Journal: Cancer Res.. 2008 Apr;68(7):2053-7.

 

Germ-line mutations in specific genes predispose family members to cancer. Prediction of the exact tumor type and timing of cancer initiation is fundamental to the development of management strategies for these individuals. Recent advances in our understanding of the general processes ...

Last Updated: 2 Apr 2008

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Genetic Studies of Li-Fraumeni Syndrome
 

Status: Recruiting

Condition Summary: Li-Fraumeni Syndrome; Neoplasms; Tp53 Mutations

 

Last Updated: 11 Nov 2014

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Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome
 

Status: Recruiting

Condition Summary: Li-Fraumeni Syndrome

 

Last Updated: 27 Nov 2012

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Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome
 

Status: Recruiting

Condition Summary: Li-Fraumeni Syndrome

 

Last Updated: 21 Jun 2014

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