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

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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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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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

There are currently no related results available in GeneReviews.

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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: 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: 18 Apr 2015

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