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.

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Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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

Genotype Versus Phenotype: The Yin and Yang of Germline TP53 Mutations in Li-Fraumeni Syndrome.
 

Author(s): Kim E Nichols, David Malkin

Journal: J. Clin. Oncol.. 2015 Jul;33(21):2331-3.

 

Last Updated: 18 Jul 2015

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The benefit and burden of cancer screening in Li-Fraumeni syndrome: a case report.
 

Author(s): Ami P Jhaveri, Allen Bale, Niki Lovick, Kaye Zuckerman, Hari Deshpande, Kristina Rath, Peter Schwartz, Erin W Hofstatter

Journal:

 

Li-Fraumeni syndrome is a rare cancer predisposition syndrome classically associated with remarkably early onset of cancer in families with a typical spectrum of malignancies, including sarcoma, breast cancer, brain tumors, and adrenocortical carcinoma. Because the risks of cancer ...

Last Updated: 1 Jun 2015

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Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
 

Author(s): Gaëlle Bougeard, Mariette Renaux-Petel, Jean-Michel Flaman, Camille Charbonnier, Pierre Fermey, Muriel Belotti, Marion Gauthier-Villars, Dominique Stoppa-Lyonnet, Emilie Consolino, Laurence Brugières, Olivier Caron, Patrick R Benusiglio, Brigitte Bressac-de Paillerets, Valérie Bonadona, Catherine Bonaïti-Pellié, Julie Tinat, Stéphanie Baert-Desurmont, Thierry Frebourg

Journal: J. Clin. Oncol.. 2015 Jul;33(21):2345-52.

 

The aim of the study was to update the description of Li-Fraumeni syndrome (LFS), a remarkable cancer predisposition characterized by extensive clinical heterogeneity.

Last Updated: 18 Jul 2015

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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:

Targeted therapy for hereditary cancer syndromes: hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and Li-Fraumeni syndrome.
 

Author(s): Rishi Agarwal, Sarah Liebe, Michelle L Turski, Smruti J Vidwans, Filip Janku, Ignacio Garrido-Laguna, Javier Munoz, Richard Schwab, Jordi Rodon, Razelle Kurzrock, Vivek Subbiah,

Journal: Discov Med. 2014 Dec;18(101):331-9.

 

Cancer genetics has rapidly evolved in the last two decades. Understanding and exploring the several genetic pathways in the cancer cell is the foundation of targeted therapy. Several genomic aberrations have been identified and their role in carcinogenesis is being explored. In contrast ...

Last Updated: 31 Dec 2014

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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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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: 28 Sep 2016

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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: 2 Sep 2016

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Last Updated: 9 Feb 2016

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