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

Phuong L. Mai, David Malkin, Judy E. Garber, Joshua D. Schiffman, Jeffrey N. Weitzel, Louise C. Strong, Oliver Wyss, Luana Locke, Von Means, Maria Isabel Achatz, Pierre Hainaut, Thierry Frebourg, D. Gareth Evans, Eveline Bleiker, Andrea Patenaude, Katherine Schneider, Benjamin Wilfond, June A. Peters, Paul M. Hwang, James FordUri Tabori, Simona Ognjanovic, Phillip A. Dennis, Ingrid M. Wentzensen, Mark H. Greene, Joseph F. Fraumeni, Sharon A. Savage

Research output: Contribution to journalArticlepeer-review

52 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)479-487
Number of pages9
JournalCancer Genetics
Issue number10
StatePublished - Oct 2012
Externally publishedYes


  • Hereditary cancer predisposition syndrome
  • Li-Fraumeni syndrome
  • TP53 mutations

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research


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