New Paradigms in the Clinical Management of Li-Fraumeni Syndrome.

Journal

Cold Spring Harbor perspectives in medicine
ISSN: 2157-1422
Titre abrégé: Cold Spring Harb Perspect Med
Pays: United States
ID NLM: 101571139

Informations de publication

Date de publication:
01 May 2024
Historique:
medline: 2 5 2024
pubmed: 2 5 2024
entrez: 1 5 2024
Statut: aheadofprint

Résumé

Approximately 8.5%-16.2% of childhood cancers are associated with a pathogenic/likely pathogenic germline variant-a prevalence that is likely to rise with improvements in phenotype recognition, sequencing, and variant validation. One highly informative, classical hereditary cancer predisposition syndrome is Li-Fraumeni syndrome (LFS), associated with germline variants in the

Identifiants

DOI: 10.1101/cshperspect.a041584 PMID: 38692744
pubmed: 38692744
pii: cshperspect.a041584
doi: 10.1101/cshperspect.a041584
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Copyright © 2024 Cold Spring Harbor Laboratory Press; all rights reserved.

Auteurs

Camilla Giovino (C)

Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Department of Medical Biophysics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario M5G 1L7, Canada.

Vallijah Subasri (V)

Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Department of Medical Biophysics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario M5G 1L7, Canada.

Frank Telfer (F)

Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Department of Medical Biophysics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario M5G 1L7, Canada.

David Malkin (D)

Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada david.malkin@sickkids.ca.
Department of Medical Biophysics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario M5G 1L7, Canada.
Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario M5S 1A8, Canada.
Division of Hematology-Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, Ontario M5G 1X8, Canada.

Classifications MeSH