Medizinische Universität Graz - Research portal
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SHR Neuro Cancer Cardio Lipid Metab Microb
Penkert, J; Strüwe, FJ; Dutzmann, CM; Doergeloh, BB; Montellier, E; Freycon, C; Keymling, M; Schlemmer, HP; Sänger, B; Hoffmann, B; Gerasimov, T; Blattmann, C; Fetscher, S; Frühwald, M; Hettmer, S; Kordes, U; Ridola, V; Kroiss, Benninger, S; Mastronuzzi, A; Schott, S; Nees, J; Prokop, A; Redlich, A; Seidel, MG; Zimmermann, S; Pajtler, KW; Pfister, SM; Hainaut, P; Kratz, CP.
Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.
J Hematol Oncol. 2022; 15(1): 107
Doi: 10.1186/s13045-022-01332-1
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- Seidel Markus
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- 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 < 0.01). Kato partially functional variants were present in 10 out of 53 (19%) families without childhood cancer except adrenocortical carcinoma (ACC) versus 0 out of 41 families with childhood cancer other than ACC alone (P value < 0.01). Our study suggests genotype-phenotype correlations encouraging further analyses.
- Find related publications in this database (using NLM MeSH Indexing)
- Adrenal Cortex Neoplasms - genetics
- Adrenocortical Carcinoma - genetics
- Genetic Association Studies - administration & dosage
- Genetic Predisposition to Disease - administration & dosage
- Germ-Line Mutation - administration & dosage
- Humans - administration & dosage
- Li-Fraumeni Syndrome - diagnosis, epidemiology, genetics
- Registries - administration & dosage
- Tumor Suppressor Protein p53 - genetics
- Find related publications in this database (Keywords)
- Li-Fraumeni syndrome
- TP53
- Genotype
- Phenotype
- Cancer predisposition