title: Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium.
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 research, and engage the LFS family community. This workshop also led to the creation of the Li-Fraumeni Exploration (LiFE) Research Consortium.
authors.affiliation: Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA. maip@mail.nih.gov
authors.forename: Phuong L
authors.initials: PL
authors.lastname: Mai
authors.forename: David
authors.initials: D
authors.lastname: Malkin
authors.forename: Judy E
authors.initials: JE
authors.lastname: Garber
authors.forename: Joshua D
authors.initials: JD
authors.lastname: Schiffman
authors.forename: Jeffrey N
authors.initials: JN
authors.lastname: Weitzel
authors.forename: Louise C
authors.initials: LC
authors.lastname: Strong
authors.forename: Oliver
authors.initials: O
authors.lastname: Wyss
authors.forename: Luana
authors.initials: L
authors.lastname: Locke
authors.forename: Von
authors.initials: V
authors.lastname: Means
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: Achatz
authors.forename: Pierre
authors.initials: P
authors.lastname: Hainaut
authors.forename: Thierry
authors.initials: T
authors.lastname: Frebourg
authors.forename: D Gareth
authors.initials: DG
authors.lastname: Evans
authors.forename: Eveline
authors.initials: E
authors.lastname: Bleiker
authors.forename: Andrea
authors.initials: A
authors.lastname: Patenaude
authors.forename: Katherine
authors.initials: K
authors.lastname: Schneider
authors.forename: Benjamin
authors.initials: B
authors.lastname: Wilfond
authors.forename: June A
authors.initials: JA
authors.lastname: Peters
authors.forename: Paul M
authors.initials: PM
authors.lastname: Hwang
authors.forename: James
authors.initials: J
authors.lastname: Ford
authors.forename: Uri
authors.initials: U
authors.lastname: Tabori
authors.forename: Simona
authors.initials: S
authors.lastname: Ognjanovic
authors.forename: Phillip A
authors.initials: PA
authors.lastname: Dennis
authors.forename: Ingrid M
authors.initials: IM
authors.lastname: Wentzensen
authors.forename: Mark H
authors.initials: MH
authors.lastname: Greene
authors.forename: Joseph F
authors.initials: JF
authors.lastname: Fraumeni
authors.forename: Sharon A
authors.initials: SA
authors.lastname: Savage
mesh_terms: D003226:Congresses as Topic; D005192:Family Health; D005260:Female; D016158:Genes, p53; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000523:psychology; D008297:Male; D009316:National Institutes of Health (U.S.); D009369:Neoplasms / Q000235:genetics; D016730:Program Development; D016159:Tumor Suppressor Protein p53 / Q000235:genetics; D014481:United States
chemical_list: D016159:Tumor Suppressor Protein p53