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.

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

The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome.
 

Author(s): Jessica Ross, Jasmina Bojadzieva, Susan Peterson, Sarah Jane Noblin, Rebecca Yzquierdo, Martha Askins, Louise Strong

Journal: Genet. Med.. 2017 09;19(9):1064-1070.

 

In the past 5 years, new screening protocols have been developed that provide improved cancer screening options for individuals with Li-Fraumeni syndrome (LFS). Very little has been published on the psychosocial impact of these screening protocols. The goals of this study were to ...

Last Updated: 31 Dec 1969

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Allele-specific wild-type TP53 expression in the unaffected carrier parent of children with Li-Fraumeni syndrome.
 

Author(s): Jeffrey S Buzby, Shirley A Williams, Lana Schaffer, Steven R Head, Diane J Nugent

Journal: Cancer Genet. 2017 Feb;211():9-17.

 

Li-Fraumeni syndrome (LFS) is an autosomal dominant disorder where an oncogenic TP53 germline mutation is passed from parent to child. Tumor protein p53 is a key tumor suppressor regulating cell cycle arrest in response to DNA damage. Paradoxically, some mutant TP53 carriers remain ...

Last Updated: 31 Dec 1969

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Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy.
 

Author(s): Priscila Giavedoni, Marnie Ririe, Cristina Carrera, Susana Puig, Josep Malvehy

Journal: Acta Derm. Venereol.. 2017 Jun;97(6):720-723.

 

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disorder caused by a mutation in the p53 gene. Melanoma is considered to be a rare, controversial component of LFS. The aim of this study is to describe the utility of systematic screening for melanoma in patients with LFS and ...

Last Updated: 31 Dec 1969

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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 10 free, full-text review articles on human participants. First 3 results:

[A rhabdomyosarcoma patient from a Li-Fraumeni syndrome family: a case report and literature review].
 

Author(s): Yao Xie, Wei-Hong Zhao, Ying Hua, Qing Sun, Peng-Hui Wu

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2017 Dec;19(12):1263-1266.

 

Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome, with the characteristics of early onset of cancer and high cancer incidence. TP53 is widely accepted as a pathogenic gene of LFS. A 2 years and 6 months old boy is reported in this article, who was diagnosed ...

Last Updated: 31 Dec 1969

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Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
 

Author(s): Christian P Kratz, Maria Isabel Achatz, Laurence Brugières, Thierry Frebourg, Judy E Garber, Mary-Louise C Greer, Jordan R Hansford, Katherine A Janeway, Wendy K Kohlmann, Rose McGee, Charles G Mullighan, Kenan Onel, Kristian W Pajtler, Stefan M Pfister, Sharon A Savage, Joshua D Schiffman, Katherine A Schneider, Louise C Strong, D Gareth R Evans, Jonathan D Wasserman, Anita Villani, David Malkin

Journal: Clin. Cancer Res.. 2017 06;23(11):e38-e45.

 

Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited condition caused by germline mutations of the tumor suppressor gene encoding p53, a transcription factor triggered as a protective cellular mechanism against different stressors. Loss of p53 function renders affected ...

Last Updated: 31 Dec 1969

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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 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Recruiting

Condition Summary: Li-Fraumeni Syndrome

 

Last Updated: 7 Jul 2018

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Clinical and Genetic Studies of Li-Fraumeni Syndrome
 

Status: Recruiting

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

 

Last Updated: 18 May 2018

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