TY - JOUR
T1 - Li-Fraumeni syndrome
T2 - Report of a clinical research workshop and creation of a research consortium
AU - Mai, Phuong L.
AU - Malkin, David
AU - Garber, Judy E.
AU - Schiffman, Joshua D.
AU - Weitzel, Jeffrey N.
AU - Strong, Louise C.
AU - Wyss, Oliver
AU - Locke, Luana
AU - Means, Von
AU - Achatz, Maria Isabel
AU - Hainaut, Pierre
AU - Frebourg, Thierry
AU - Evans, D. Gareth
AU - Bleiker, Eveline
AU - Patenaude, Andrea
AU - Schneider, Katherine
AU - Wilfond, Benjamin
AU - Peters, June A.
AU - Hwang, Paul M.
AU - Ford, James
AU - Tabori, Uri
AU - Ognjanovic, Simona
AU - Dennis, Phillip A.
AU - Wentzensen, Ingrid M.
AU - Greene, Mark H.
AU - Fraumeni, Joseph F.
AU - Savage, Sharon A.
PY - 2012/10/1
Y1 - 2012/10/1
N2 - 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.
AB - 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.
KW - Hereditary cancer predisposition syndrome
KW - Li-Fraumeni syndrome
KW - TP53 mutations
UR - http://www.scopus.com/inward/record.url?scp=84867671998&partnerID=8YFLogxK
U2 - 10.1016/j.cancergen.2012.06.008
DO - 10.1016/j.cancergen.2012.06.008
M3 - Article
C2 - 22939227
AN - SCOPUS:84867671998
SN - 2210-7762
VL - 205
SP - 479
EP - 487
JO - Cancer Genetics
JF - Cancer Genetics
IS - 10
ER -
