Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
CYP1A1
DNA repair
ERCC5
MSH2
MUTYH
VHL
cancer predisposition
hepatoblastoma
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
19
01
2022
accepted:
08
03
2022
entrez:
2
5
2022
pubmed:
3
5
2022
medline:
3
5
2022
Statut:
epublish
Résumé
The ultrarare hepatoblastoma (HB) is the most common pediatric liver cancer. HB risk is related to a few rare syndromes, and the molecular bases remain elusive for most cases. We investigated the burden of rare damaging germline variants in 30 Brazilian patients with HB and the presence of additional clinical signs. A high frequency of prematurity (20%) and birth defects (37%), especially craniofacial (17%, including craniosynostosis) and kidney (7%) anomalies, was observed. Putative pathogenic or likely pathogenic monoallelic germline variants mapped to 10 cancer predisposition genes (CPGs:
Identifiants
pubmed: 35495172
doi: 10.3389/fgene.2022.858396
pii: 858396
pmc: PMC9039399
doi:
Types de publication
Journal Article
Langues
eng
Pagination
858396Informations de copyright
Copyright © 2022 Aguiar, Teixeira, Scliar, Sobral de Barros, Lemes, Souza, Tolezano, Santos, Tojal, Cypriano, Caminada de Toledo, Valadares, Borges Pinto, Pinto Artigalas, Caetano de Aguirre Neto, Novak, Cristofani, Miura Sugayama, Odone, Cunha, Lima da Costa, Rosenberg and Krepischi.
Déclaration de conflit d'intérêts
Author IC was employed by Rede D’OR-São Luiz. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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