Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium

Cancer Genet. 2012 Oct;205(10):479-87. doi: 10.1016/j.cancergen.2012.06.008. Epub 2012 Aug 29.


Li-Fraumeni syndrome (LFS) is a rare dominantly inherited cancer predisposition syndrome that was first described in 1969. In most families, it is caused by germline mutations in the TP53 gene and is characterized by early onset of multiple specific cancers and very high lifetime cumulative cancer risk. Despite significant progress in understanding the molecular biology of TP53, the optimal clinical management of this syndrome is poorly defined. We convened a workshop on November 2, 2010, at the National Institutes of Health in Bethesda, Maryland, bringing together clinicians and scientists, as well as individuals from families with LFS, to review the state of the science, address clinical management issues, stimulate collaborative research, and engage the LFS family community. This workshop also led to the creation of the Li-Fraumeni Exploration (LiFE) Research Consortium.

Publication types

  • Congress
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Congresses as Topic
  • Family Health
  • Female
  • Genes, p53*
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Li-Fraumeni Syndrome / diagnosis*
  • Li-Fraumeni Syndrome / genetics*
  • Li-Fraumeni Syndrome / psychology
  • Male
  • National Institutes of Health (U.S.)
  • Neoplasms / genetics
  • Program Development
  • Tumor Suppressor Protein p53 / genetics
  • United States


  • Tumor Suppressor Protein p53