Li-Fraumeni syndrome: cancer risk assessment and clinical management

Nat Rev Clin Oncol. 2014 May;11(5):260-71. doi: 10.1038/nrclinonc.2014.41. Epub 2014 Mar 18.

Abstract

Carriers of germline mutations in the TP53 gene, encoding the cell-cycle regulator and tumour suppressor p53, have a markedly increased risk of cancer-related morbidity and mortality during both childhood and adulthood, and thus require appropriate and effective cancer risk management. However, the predisposition of such patients to multiorgan tumorigenesis presents a specific challenge for cancer risk management programmes. Herein, we review the clinical implications of germline mutations in TP53 and the evidence for cancer screening and prevention strategies in individuals carrying such mutations, as well as examining the potential psychosocial implications of lifelong management for a ubiquitous cancer risk. In addition, we propose an evidence-based framework for the clinical management of TP53 mutation carriers and provide a platform for addressing the management of other cancer predisposition syndromes that can affect multiple organs.

Publication types

  • Review

MeSH terms

  • Adult
  • Age of Onset
  • Carrier State
  • Child
  • DNA Copy Number Variations
  • Early Detection of Cancer / methods
  • Early Detection of Cancer / psychology
  • Female
  • Genes, p53
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Hedgehog Proteins / physiology
  • Humans
  • Li-Fraumeni Syndrome* / diagnosis
  • Li-Fraumeni Syndrome* / genetics
  • Li-Fraumeni Syndrome* / psychology
  • Li-Fraumeni Syndrome* / therapy
  • Male
  • Neoplasms / diagnosis
  • Neoplasms / etiology
  • Neoplasms / prevention & control
  • Proto-Oncogene Proteins c-mdm2 / genetics
  • Risk
  • Telomere Shortening

Substances

  • Hedgehog Proteins
  • MDM2 protein, human
  • Proto-Oncogene Proteins c-mdm2