Article

<i>BARD1</i> germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma

2023-02-03

Abstract excerpt

<h4>Importance</h4> 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 neuroblastoma patients, and also discovered pathogenic (P) or likely pathogenic (LP) rare germline loss-of-function...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 630985ed-ece3-53a3-ab9c-504cb97ecc08
DOI: 10.1101/2023.01.31.525066

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

<i>BARD1</i> germline variants induce haploinsufficiency and DNA repair defects in neuroblastomaDOI 10.1101/2023.01.31.525066Read

BARD1germline variants induce haploinsufficiency and DNA repair defects in neuroblastomaSemantic proximity Read

Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.Semantic proximity Read

Germline pathogenic variants in 786 neuroblastoma patientsSemantic proximity Read

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.Semantic proximity Read

Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor.Semantic proximity Read

BRCA1-Associated RING Domain-1 (BARD1) Loss and GBP1 Expression Enhance Sensitivity to DNA Damage in Ewing SarcomaSemantic proximity Read

Clinical Response to a PARP Inhibitor and Chemotherapy in a Child with BARD1-Mutated Refractory Neuroblastoma: A Case ReportSemantic proximity Read

Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity.Semantic proximity Read

The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers.Semantic proximity Read

Functional consequences of a rare missense BARD1 c.403G>A germline mutation identified in a triple-negative breast cancer patient.Semantic proximity Read

Multimodal analysis of rare BARD1 missense variant suggests its pathogenicity is conditionalSemantic proximity Read

Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility.Semantic proximity Read