Li-Fraumeni syndrome: Report of a clinical research workshop and creation of a research consortium

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; Uri Tabori; Simona Ognjanovic; Phillip A. Dennis; Ingrid M. Wentzensen; Mark H. Greene; Joseph F. Fraumeni; Sharon A. Savage

doi:10.1016/j.cancergen.2012.06.008

Li-Fraumeni syndrome: Report of a clinical research workshop and creation of a research consortium

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

Uri Tabori, Simona Ognjanovic, Phillip A. Dennis, Ingrid M. Wentzensen, Mark H. Greene, Joseph F. Fraumeni, Sharon A. Savage

^*Corresponding author for this work

Division of Evolution, Infection and Genomics

National Cancer Institute
The Hospital for Sick Children
Dana-Farber Cancer Institute
University of Utah
Beckman Research Institute of City of Hope
University of Texas MD Anderson Cancer Center
International Prevention Research Institute
Rouen University Hospital
Netherlands Cancer Institute
Harvard Medical School
University of Washington
National Heart, Lung & Blood Institute (NHBLI)
Stanford University
University of Minnesota Twin Cities
A.C. Camargo Cancer Center
National Institute of Science and Technology in Oncogenomics and Therapeutic Innovation

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	479-487
Number of pages	9
Journal	Cancer Genetics
Volume	205
Issue number	10
DOIs	https://doi.org/10.1016/j.cancergen.2012.06.008
Publication status	Published - 1 Oct 2012

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Hereditary cancer predisposition syndrome
Li-Fraumeni syndrome
TP53 mutations

Access to Document

10.1016/j.cancergen.2012.06.008

Cite this

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., ... Savage, S. A. (2012). Li-Fraumeni syndrome: Report of a clinical research workshop and creation of a research consortium. Cancer Genetics, 205(10), 479-487. https://doi.org/10.1016/j.cancergen.2012.06.008

@article{cea0a8e456b746c6a6d56e703395d3b3,

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.",

keywords = "Hereditary cancer predisposition syndrome, Li-Fraumeni syndrome, TP53 mutations",

author = "Mai, \{Phuong L.\} and David Malkin and Garber, \{Judy E.\} and Schiffman, \{Joshua D.\} and Weitzel, \{Jeffrey N.\} and Strong, \{Louise C.\} and Oliver Wyss and Luana Locke and Von Means and Achatz, \{Maria Isabel\} and Pierre Hainaut and Thierry Frebourg and Evans, \{D. Gareth\} and Eveline Bleiker and Andrea Patenaude and Katherine Schneider and Benjamin Wilfond and Peters, \{June A.\} and Hwang, \{Paul M.\} and James Ford and Uri Tabori and Simona Ognjanovic and Dennis, \{Phillip A.\} and Wentzensen, \{Ingrid M.\} and Greene, \{Mark H.\} and Fraumeni, \{Joseph F.\} and Savage, \{Sharon A.\}",

year = "2012",

month = oct,

day = "1",

doi = "10.1016/j.cancergen.2012.06.008",

language = "English",

volume = "205",

pages = "479--487",

journal = "Cancer Genetics",

issn = "2210-7762",

publisher = "Elsevier BV",

number = "10",

}

Mai, PL, Malkin, D, Garber, JE, Schiffman, JD, Weitzel, JN, Strong, LC, Wyss, O, Locke, L, Means, V, Achatz, MI, Hainaut, P, Frebourg, T, Evans, DG, Bleiker, E, Patenaude, A, Schneider, K, Wilfond, B, Peters, JA, Hwang, PM, Ford, J, Tabori, U, Ognjanovic, S, Dennis, PA, Wentzensen, IM, Greene, MH, Fraumeni, JF & Savage, SA 2012, 'Li-Fraumeni syndrome: Report of a clinical research workshop and creation of a research consortium', Cancer Genetics, vol. 205, no. 10, pp. 479-487. https://doi.org/10.1016/j.cancergen.2012.06.008

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 - https://www.scopus.com/pages/publications/84867671998

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 -

Li-Fraumeni syndrome: Report of a clinical research workshop and creation of a research consortium

Abstract

UN SDGs

Keywords

Access to Document

Other files and links

Fingerprint

Cite this