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p53 Review Article
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Germline TP53 mutations and Li-Fraumeni syndrome†
Article first published online: 24 FEB 2003
DOI: 10.1002/humu.10185
Copyright © 2003 Wiley-Liss, Inc.
Issue
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Human Mutation
Special Issue: Focus on p53 and Cancer
Volume 21, Issue 3, pages 313–320, March 2003
Additional Information
How to Cite
Varley, J.M. (2003), Germline TP53 mutations and Li-Fraumeni syndrome. Hum. Mutat., 21: 313–320. doi: 10.1002/humu.10185
- †
Publication History
- Issue published online: 24 FEB 2003
- Article first published online: 24 FEB 2003
Funded by
- Cancer Research UK
- Abstract
- References
- Cited By
Keywords:
- germline;
- p53;
- TP53;
- cancer;
- tumor;
- Li-Fraumeni syndrome;
- LFS;
- LFL;
- germline mutation;
- adrenocortical carcinoma;
- ACC;
- mutation detection
Abstract
There are now reports of nearly 250 independent germline TP53 (p53) mutations in over 100 publications. Such mutations are typically associated with Li-Fraumeni or Li-Fraumeni-like syndrome, although many have been identified in cohorts of patients with tumors considered to be typical of LFS. In general, the spectrum of mutations that has been detected in the germline reflects that found in tumors, although there are some notable exceptions in certain tumor types. Detailed knowledge of the pedigrees allows a comprehensive analysis of genotype–phenotype correlations and an understanding of the tumors that are associated with germline TP53 mutations. This review will discuss the spectrum of mutations and the methods for mutation detection, the tumors associated with inheritance of a germline mutation, and some of the ethical and clinical problems in patients with a germline TP53 mutation. Hum Mutat 21:313–320, 2003. © 2003 Wiley-Liss, Inc.