TY  - JOUR
AU  - Penkert, Judith
AU  - Strüwe, Farina J.
AU  - Dutzmann, Christina M.
AU  - Doergeloh, Beate B.
AU  - Montellier, Emilie
AU  - Freycon, Claire
AU  - Keymling, Myriam
AU  - Schlemmer, Heinz-Peter
AU  - Sänger, Birte
AU  - Hoffmann, Beatrice
AU  - Gerasimov, Tanja
AU  - Blattmann, Claudia
AU  - Fetscher, Sebastian
AU  - Frühwald, Michael
AU  - Hettmer, Simone
AU  - Kordes, Uwe
AU  - Ridola, Vita
AU  - Kroiss Benninger, Sabine
AU  - Mastronuzzi, Angela
AU  - Schott, Sarah
AU  - Nees, Juliane
AU  - Prokop, Aram
AU  - Redlich, Antje
AU  - Seidel, Markus G.
AU  - Zimmermann, Stefanie
AU  - Pajtler, Kristian
AU  - Pfister, Stefan
AU  - Hainaut, Pierre
AU  - Kratz, Christian P.
TI  - Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry
JO  - Journal of hematology & oncology
VL  - 15
IS  - 1
SN  - 1756-8722
CY  - London
PB  - Biomed Central
M1  - DKFZ-2022-01870
SP  - 107
PY  - 2022
AB  - 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
LB  - PUB:(DE-HGF)16
C6  - pmid:35974385
DO  - DOI:10.1186/s13045-022-01332-1
UR  - https://inrepo02.dkfz.de/record/181222
ER  -