%0 Journal Article
%A Penkert, Judith
%A Strüwe, Farina J.
%A Dutzmann, Christina M.
%A Doergeloh, Beate B.
%A Montellier, Emilie
%A Freycon, Claire
%A Keymling, Myriam
%A Schlemmer, Heinz-Peter
%A Sänger, Birte
%A Hoffmann, Beatrice
%A Gerasimov, Tanja
%A Blattmann, Claudia
%A Fetscher, Sebastian
%A Frühwald, Michael
%A Hettmer, Simone
%A Kordes, Uwe
%A Ridola, Vita
%A Kroiss Benninger, Sabine
%A Mastronuzzi, Angela
%A Schott, Sarah
%A Nees, Juliane
%A Prokop, Aram
%A Redlich, Antje
%A Seidel, Markus G.
%A Zimmermann, Stefanie
%A Pajtler, Kristian
%A Pfister, Stefan
%A Hainaut, Pierre
%A Kratz, Christian P.
%T Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry
%J Journal of hematology & oncology
%V 15
%N 1
%@ 1756-8722
%C London
%I Biomed Central
%M DKFZ-2022-01870
%P 107
%D 2022
%X 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 phenotypic variability of the condition. Within this spectrum, patients who meet specific LFS criteria are diagnosed with LFS, while patients who do not meet these criteria are diagnosed with attenuated LFS. To explore genotype-phenotype correlations we analyzed 141 individuals from 94 families with pathogenic TP53 variants registered in the German Cancer Predisposition Syndrome Registry. Twenty-one (22
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:35974385
%R 10.1186/s13045-022-01332-1
%U https://inrepo02.dkfz.de/record/181222