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

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Mai, PL; Malkin, D; Garber, JE; Schiffman, JD; Weitzel, JN; Strong, LC; Wyss, O; Locke, L; Means, V; Achatz, MI; Hainaut, P; Frebourg, T; Evans, DG; Bleiker, E; Patenaude, A; Schneider, K; Wilfond, B; Peters, JA; Hwang, PM; Ford, J; Tabori, U; Ognjanovic, S; Dennis, PA; Wentzensen, IM; Greene, MH; Fraumeni, JF; Savage, SA

Published Date

  • October 2012

Published In

Volume / Issue

  • 205 / 10

Start / End Page

  • 479 - 487

PubMed ID

  • 22939227

Pubmed Central ID

  • PMC3593717

International Standard Serial Number (ISSN)

  • 2210-7762

Digital Object Identifier (DOI)

  • 10.1016/j.cancergen.2012.06.008


  • eng

Conference Location

  • United States