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BARD1germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma

8 Sept 2023

Abstract excerpt

BACKGROUND: High-risk neuroblastoma is a complex genetic disease that is lethal in more than 50% of patients despite intense multimodal therapy. Through genome-wide association studies (GWAS) and next-generation sequencing, we have identified common single nucleotide polymorphisms and rare, pathogenic or likely pathogenic germline loss-of-function variants in BARD1 enriched in neuroblastoma patients. The...

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PMID: 37688570
DOI: 10.1093/jnci/djad182

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