Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.
Cancer predisposition
Genotype
Li-Fraumeni syndrome
Phenotype
TP53
Journal
Journal of hematology & oncology
ISSN: 1756-8722
Titre abrégé: J Hematol Oncol
Pays: England
ID NLM: 101468937
Informations de publication
Date de publication:
16 08 2022
16 08 2022
Historique:
received:
27
06
2022
accepted:
01
08
2022
entrez:
16
8
2022
pubmed:
17
8
2022
medline:
19
8
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 35974385
doi: 10.1186/s13045-022-01332-1
pii: 10.1186/s13045-022-01332-1
pmc: PMC9382737
doi:
Substances chimiques
Tumor Suppressor Protein p53
0
Types de publication
Letter
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
107Subventions
Organisme : BMBF ADDRess
ID : 01GM1909E
Organisme : BMBF ADDRess
ID : 01GM1909D
Organisme : BMBF ADDRess
ID : 01GM1909A
Organisme : Deutsche Kinderkrebsstiftung
ID : DKS2019.13
Informations de copyright
© 2022. The Author(s).
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