Germline TP53 mutations and Li-Fraumeni syndrome

Hum Mutat. 2003 Mar;21(3):313-20. doi: 10.1002/humu.10185.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Family Health
  • Genotype
  • Germ-Line Mutation*
  • Humans
  • Li-Fraumeni Syndrome / genetics*
  • Phenotype
  • Tumor Suppressor Protein p53 / genetics*


  • Tumor Suppressor Protein p53

Associated data

  • OMIM/151623
  • OMIM/191170