Li-Fraumeni syndrome

Common Name(s)

Li-Fraumeni syndrome

Li Fraumeni syndrome is genetic condition that increases the chances of a person developing certain cancers over a lifetime. Some of the types of cancer seen in Li Fraumeni syndrome are soft tissue sarcomas, breast cancer, and osteosarcomas (cancer of bone cells). Most of the cancers associated with Li Fraumeni syndrome appear in late childhood and early teenage years. Li Fraumeni syndrome is caused by changes (mutations) in either the CHEK2 gene or TP53 gene. These genes are known as tumor suppressor genes, which are genes that help protect the body from cancer by making sure cells divide in a controlled way. When tumor suppressor genes are not working properly, cell division and growth is not controlled, leading to the cancers seen in Li Fraumeni syndrome.

Li Fraumeni syndrome is inherited in an autosomal dominant manner. People have two copies of most genes in their body, including CHEK2 and TP53. People with Li Fraumeni syndrome are born with a mutation in only one of the two CHEK2 or TP53 gene copies they have. This means they have only one copy of the gene that works in all of their cells. If at some point in their life the other copy of the gene becomes mutated in a cell, which can happen randomly, that person will no longer have a working copy of the gene. This occurrence is what leads to the start of cancer in whatever tissue the cell is located in.

Li Fraumeni syndrome is suspected in a person who has one of the related cancers at a young age, usually before the age of 50 years, as well as a family history of related cancers. The diagnosis is confirmed with genetic testing. Aggressive screening, including imaging and blood studies, are recommended to identify cancer at an early stage in people with Li Fraumeni syndrome. If your child has been diagnosed with Li Fraumeni syndrome, talk with their doctor to discuss treatment and screening recommendations. Support groups can help connect you with other affected families.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

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How do you compare to others with this condition?

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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 77 free, full-text research articles on human participants. First 3 results:

Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li-Fraumeni cancer predisposition syndrome.
 

Author(s): Hany Ariffin, Pierre Hainaut, Anna Puzio-Kuter, Soo Sin Choong, Adelyne Sue Li Chan, Denis Tolkunov, Gunaretnam Rajagopal, Wenfeng Kang, Leon Li Wen Lim, Shekhar Krishnan, Kok-Siong Chen, Maria Isabel Achatz, Mawar Karsa, Jannah Shamsani, Arnold J Levine, Chang S Chan

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Oct;111(43):15497-501.

 

The Li-Fraumeni syndrome (LFS) and its variant form (LFL) is a familial predisposition to multiple forms of childhood, adolescent, and adult cancers associated with germ-line mutation in the TP53 tumor suppressor gene. Individual disparities in tumor patterns are compounded by acceleration ...

Last Updated: 29 Oct 2014

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Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.
 

Author(s): Juliana Giacomazzi, Simone G Selistre, Cristina Rossi, Barbara Alemar, Patricia Santos-Silva, Fernando S Pereira, Cristina B Netto, Silvia L Cossio, Daniela E Roth, Algemir L Brunetto, Marcelo Zagonel-Oliveira, Ghyslaine Martel-Planche, Jose R Goldim, Pierre Hainaut, Suzi A Camey, Patricia Ashton-Prolla

Journal: Cancer. 2013 Dec;119(24):4341-9.

 

Pediatric cancers are a feature in patients with Li-Fraumeni syndrome and its variant Li-Fraumeni-like syndrome (LFS/LFL). To the best of the authors' knowledge, TP53 germline mutations are currently the only molecular defect known to be associated with this disease. Recently, a specific ...

Last Updated: 4 Dec 2013

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Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation.
 

Author(s): Violeta Serra, Ana Vivancos, Xose S Puente, Enriqueta Felip, Daniel Silberschmidt, Ginevra Caratù, Josep-Lluís Parra, Leticia De Mattos-Arruda, Judit Grueso, Javier Hernández-Losa, Joaquín Arribas, Ludmila Prudkin, Paolo Nuciforo, Maurizio Scaltriti, Joan Seoane, José Baselga

Journal: Cancer Discov. 2013 Nov;3(11):1238-44.

 

Genomic characterization of recurrent breast and lung tumors developed over the course of 10 years in a 29-year-old patient with a germline TP53 mutation (Li-Fraumeni Syndrome) identified oncogenic alterations in the HER2 and EGFR genes across all tumors, including HER2 amplifications, ...

Last Updated: 8 Nov 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 Krüger

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: 20 Mar 2015

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Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome
 

Status: Recruiting

Condition Summary: Li-Fraumeni Syndrome

 

Last Updated: 13 Jul 2015

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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: 18 Apr 2015

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