Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium CANCER GENETICS Mai, P. L., Malkin, D., Garber, J. E., Schiffman, J. D., Weitzel, J. N., Strong, L. C., Wyss, O., Locke, L., Means, V., Achatz, M. I., Hainaut, P., Frebourg, T., Evans, D. G., Bleiker, E., Patenaude, A., Schneider, K., Wilfond, B., Peters, J. A., Hwang, P. M., Ford, J., Tabori, U., Ognjanovic, S., Dennis, P. A., Wentzensen, I. M., Greene, M. H., Fraumeni, J. F., Savage, S. A. 2012; 205 (10): 479-487


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.

View details for DOI 10.1016/j.cancergen.2012.06.008

View details for Web of Science ID 000310665600001

View details for PubMedID 22939227