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

P. L. Mai , D. Malkin , J. E. Garber , J. D. Schiffman , J. N. Weitzel , L. C. Strong , O. Wyss , L. Locke , V. Means , M. I. Achatz , P. Hainaut (1) , T. Frebourg , D. G. Evans , E. Bleiker , A. Patenaude , K. Schneider , B. Wilfond , J. A. Peters , P. M. Hwang , J. Ford , U. Tabori , S. Ognjanovic , P. A. Dennis , I. M. Wentzensen , M. H. Greene , Jr. Fraumeni , S. A. Savage

1 IPRI - International Prevention Research Institute

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.

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

Domaines: Santé publique et épidémiologie

P. L. Mai, D. Malkin, J. E. Garber, J. D. Schiffman, J. N. Weitzel, et al.. Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. Cancer Genet, 2012, 205 (10), pp.479-87. ⟨10.1016/j.cancergen.2012.06.008⟩. ⟨hal-01262929⟩