Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium
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- 作者：Phuong L. Mai ; David Malkin ; Judy E. Garber ; Joshua D. Schiffman ; Jeffrey N. Weitzel ; Louise C. Strong ; Oliver Wyss ; Luana Locke ; Von Means ; Maria Isabel Achatz ; Pierre Hainaut ; Thierry Frebourg ; D. Gareth Evans ; Eveline Bleiker ; Andrea Patenaude ; Katherine Schneider ; Benjamin Wilfond ; June A. Peters ; Paul M. Hwang ; James Ford ; et al.
- 关键词：Li-Fraumeni syndrome ; hereditary cancer predisposition syndrome ; TP53 mutations
- 刊名：Cancer Genetics
- 出版年：2012
- 出版时间：October, 2012
- 年：2012
- 卷：205
- 期：10
- 页码：479-487
- 全文大小：170 K
文摘
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.