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

The Features of Colorectal Tumors in a Patient with Li-Fraumeni Syndrome.
 

Author(s): Tsukasa Yoshida, Masahiro Tajika, Tsutomu Tanaka, Makoto Ishihara, Yutaka Hirayama, Nobumasa Mizuno, Kazuo Hara, Susumu Hijioka, Hiroshi Imaoka, Nobuhiro Hieda, Nozomi Okuno, Takashi Kinoshita, Vikram Bhatia, Yasuhiro Shimizu, Yasushi Yatabe, Kenji Yamao, Yasumasa Niwa

Journal: Intern. Med.. 2017 ;56(3):295-300.

 

A young woman with Li-Fraumeni syndrome (LFS) was referred to our hospital. On examination, multiple flat neoplasms were detected in addition to semi-pedunculated polyps. Restorative proctocolectomy was performed; one submucosal invasive cancer, two mucosal cancers, and several adenomas ...

Last Updated: 3 Feb 2017

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Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2.
 

Author(s): Xuehan Zhuang, Yongping Li, Hongzhi Cao, Ting Wang, Jianghao Chen, Jiayun Liu, Liya Lin, Rui Ye, Xinyang Li, Shuang Liu, Weiyang Li, Yonggang Lv, Juliang Zhang, Chenyang He, Xun Xu, Zhen Wang, Chen Huang, Xiao Liu, Ling Wang

Journal: Medicine (Baltimore). 2016 Jul;95(29):e4251.

 

Cases of multiple tumors are rarely reported in China. In our study, a 57-year-old female patient had concurrent squamous cell carcinoma, mucoepidermoid carcinoma, brain cancer, bone cancer, and thyroid cancer, which has rarely been reported to date.

Last Updated: 22 Jul 2016

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Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome.
 

Author(s): Kyoung Jin Park, Hyun Jung Choi, Soon Pal Suh, Chang Seok Ki, Jong Won Kim

Journal: Ann Lab Med. 2016 Sep;36(5):463-8.

 

Little is known of the mutation and tumor spectrum of Korean patients with Li-Fraumeni syndrome (LFS). Owing to the rarity of LFS, few cases have been reported in Korea thus far. This study aimed to retrospectively review the mutations and clinical characteristics of Korean patients with LFS.

Last Updated: 4 Jul 2016

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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 8 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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EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature.
 

Author(s): Charles Ricordel, Marie Labalette-Tiercin, Alexandra Lespagnol, Mallorie Kerjouan, Catherine Dugast, Jean Mosser, Benoit Desrues, Hervé Léna

Journal: Lung Cancer. 2015 Jan;87(1):80-4.

 

We report two cases of non-smoker patients diagnosed with EGFR-mutated lung adenocarcinoma and bearing germinal TP53 gene mutation, also known as Li-Fraumeni syndrome (LFS). We describe for the first time an EGFR-TKI resistance mutation in this population. Finally, we provide an analysis ...

Last Updated: 19 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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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: 11 Jul 2017

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Last Updated: 9 Feb 2016

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