Li-Fraumeni syndrome

Orli Michaeli, David Malkin*

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

1 Scopus citations

Abstract

Nonrandom aggregations of cancer have been recognized to occur for over 200 years. Although almost every type of cancer has been reported to occur in a familial form, evidence of hereditary and familial influences exists in less than 30% of cases. Li-Fraumeni syndrome (LFS) is a rare yet informative autosomal dominant multicancer predisposition syndrome. Our understanding of this disorder and the importance of molecular genetic events in the development of familial cancer has evolved through the evaluation of clinical observations, genetic epidemiology, and molecular biology of many of these affected kindreds. This article reviews the original and evolving clinical observations and definitions of LFS, the causal association attributed to germline TP53 gene mutations, and the genotype: phenotype aspects of the syndrome. The challenges of genetic heterogeneity are discussed, as well as the impact of predictive genetic testing and management; opportunities for application of research to future interventions are explored.

Original languageEnglish
Title of host publicationEncyclopedia of Cancer
PublisherElsevier
Pages356-368
Number of pages13
ISBN (Electronic)9780128124857
DOIs
StatePublished - 1 Jan 2018
Externally publishedYes

Keywords

  • Cancer predisposition syndrome
  • Familial cancer
  • Germline
  • Hereditary cancer
  • Li-Fraumeni syndrome
  • Surveillance
  • TP53
  • Tumor suppressor gene

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