Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry

Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry

Abstract Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants. The condition represents one of the most relevant genetic causes of cancer in children and adults due to its frequency and high cancer risk. The term Li-Fraumeni spectrum reflects the evolving...

Full description

Bibliographic Details
Main Authors: Judith Penkert, Farina J. Strüwe, Christina M. Dutzmann, Beate B. Doergeloh, Emilie Montellier, Claire Freycon, Myriam Keymling, Heinz-Peter Schlemmer, Birte Sänger, Beatrice Hoffmann, Tanja Gerasimov, Claudia Blattmann, Sebastian Fetscher, Michael Frühwald, Simone Hettmer, Uwe Kordes, Vita Ridola, Sabine Kroiss Benninger, Angela Mastronuzzi, Sarah Schott, Juliane Nees, Aram Prokop, Antje Redlich, Markus G. Seidel, Stefanie Zimmermann, Kristian W. Pajtler, Stefan M. Pfister, Pierre Hainaut, Christian P. Kratz
Format: Article
Language:English
Published: BMC 2022-08-01
Series:Journal of Hematology & Oncology
Subjects:
Li-Fraumeni syndrome
TP53
Genotype
Phenotype
Cancer predisposition
Online Access:https://doi.org/10.1186/s13045-022-01332-1

Internet

https://doi.org/10.1186/s13045-022-01332-1

Similar Items