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

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 additiona...

Descripción completa

Detalles Bibliográficos
Autores principales: Aguiar, Talita, Teixeira, Anne, Scliar, Marília O., Sobral de Barros, Juliana, Lemes, Renan B., Souza, Silvia, Tolezano, Giovanna, Santos, Fernanda, Tojal, Israel, Cypriano, Monica, Caminada de Toledo, Silvia Regina, Valadares, Eugênia, Borges Pinto, Raquel, Pinto Artigalas, Osvaldo Afonso, Caetano de Aguirre Neto, Joaquim, Novak, Estela, Cristofani, Lilian Maria, Miura Sugayama, Sofia M., Odone, Vicente, Cunha, Isabela Werneck, Lima da Costa, Cecilia Maria, Rosenberg, Carla, Krepischi, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9039399/
https://www.ncbi.nlm.nih.gov/pubmed/35495172
http://dx.doi.org/10.3389/fgene.2022.858396

Ejemplares similares

Ejemplares similares