학술논문
Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry
Document Type
article
Author
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
Source
Journal of Hematology & Oncology, Vol 15, Iss 1, Pp 1-5 (2022)
Subject
Language
English
ISSN
1756-8722
Abstract
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 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%) families had attenuated LFS and 73 (78%) families met the criteria of LFS. NULL variants occurred in 32 (44%) families with LFS and in two (9.5%) families with attenuated LFS (P value