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Li–Fraumeni Syndrome

  1. Carol Portwine,
  2. David Malkin

Published Online: 19 APR 2001

DOI: 10.1038/npg.els.0001893



How to Cite

Portwine, C. and Malkin, D. 2001. Li–Fraumeni Syndrome. eLS. .

Author Information

  1. The Hospital for Sick Children, Toronto, Ontario, Canada

Publication History

  1. Published Online: 19 APR 2001


The Li–Fraumeni syndrome is a rare inherited predisposition to the development of multiple cancer phenotypes at an early age which is attributed primarily to germline mutations of the p53 tumour suppressor gene. Identification of these families is important in the study of cancer and the development of ethical and appropriate screening modalities, prevention, early cancer detection, and treatment of individuals who harbour alterations of such cancer genes, in order that we may one day improve their prognosis.


  • tumour suppressor gene;
  • p53;
  • li–fraumeni syndrome;
  • cell cycle;
  • predictive screening