ÌÇÐÄ´«Ã½

Skip to main content
 
Notice: Users may be experiencing issues with displaying some pages on stanfordhealthcare.org. We are working closely with our technical teams to resolve the issue as quickly as possible. Thank you for your patience.
ÌÇÐÄ´«Ã½

Li-Fraumeni syndrome: report of a clinical ÌÇÐÄ´«Ã½ workshop and creation of a ÌÇÐÄ´«Ã½ consortium

ÌÇÐÄ´«Ã½

Li-Fraumeni syndrome: report of a clinical ÌÇÐÄ´«Ã½ workshop and creation of a ÌÇÐÄ´«Ã½ 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

Abstract

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 ÌÇÐÄ´«Ã½, and engage the LFS family community. This workshop also led to the creation of the Li-Fraumeni Exploration (LiFE) Research Consortium.

View details for

View details for

View details for

View details for