BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma

IMPORTANCE: High-risk neuroblastoma is a complex genetic disease that is lethal in 50% of patients despite intense multimodal therapy. Our genome-wide association study (GWAS) identified single-nucleotide polymorphisms (SNPs) within the BARD1 gene showing the most significant enrichment in neuroblas...

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Detalles Bibliográficos
Autores principales: Randall, Michael P., Egolf, Laura E., Vaksman, Zalman, Samanta, Minu, Tsang, Matthew, Groff, David, Evans, J. Perry, Rokita, Jo Lynne, Layeghifard, Mehdi, Shlien, Adam, Maris, John M., Diskin, Sharon J., Bosse, Kristopher R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915690/
https://www.ncbi.nlm.nih.gov/pubmed/36778420
http://dx.doi.org/10.1101/2023.01.31.525066

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915690/
https://www.ncbi.nlm.nih.gov/pubmed/36778420
http://dx.doi.org/10.1101/2023.01.31.525066

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