Molecular Diagnosis & Therapy

, Volume 17, Issue 1, pp 31–47 | Cite as

Tumor Protein p53 (TP53) Testing and Li-Fraumeni Syndrome

Current Status of Clinical Applications and Future Directions
  • April D. SorrellEmail author
  • Carin R. Espenschied
  • Julie O. Culver
  • Jeffrey N. WeitzelEmail author
Review Article


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 and multiple common cancers of unexpectedly early onset in adulthood. In this article, we review the clinical relevance of germline mutations in the TP53 tumor suppressor gene to current healthcare practice, including the optimal ways to identify patients with Li-Fraumeni syndrome (LFS), to recognize the core cancers associated with LFS, and to develop strategies for early detection of LFS-associated tumors. Several TP53-targeted approaches to improve outcomes in LFS patients are also reviewed. A case report is used to highlight special TP53 testing dilemmas and unique challenges associated with genetic testing decisions in the current age of rapidly advancing genomic technologies.


Hematopoietic Stem Cell Transplantation National Comprehensive Cancer Network Mammographic Density National Comprehensive Cancer Network TP53 Mutation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



The project described in this article was supported in part by grant numbers RC4CA153828 and R25CA085771 (principal investigator: J. Weitzel) from the National Cancer Institute. The content of the article is solely the responsibility of the authors and does not necessarily represent the official views of the National Cancer Institute or the National Institutes of Health. The authors wish to acknowledge Tracy Sulkin for assistance with manuscript preparation.

Conflicts of Interest

The authors state that they have no financial relationship with the funders of this work, and no other conflicts of interest that are directly relevant to the content of this article.


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Copyright information

© Springer International Publishing Switzerland 2013

Authors and Affiliations

  1. 1.Division of Clinical Cancer Genetics, Department of PediatricsCity of HopeDuarteUSA
  2. 2.Division of Clinical Cancer Genetics, Department of Population SciencesCity of HopeDuarteUSA

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