ArticleHuman mutation2015
Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks.
Article in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 33 citations in OpenAlex.
- Assessing the Clinical Relevance ofCurrent oncology (Toronto, Ont.) · 2026Article
- Multimodal analysis of a rare BARD1 missense variant suggests its pathogenicity is conditional.NPJ breast cancer · 2026Article
- Berry-derived gold nanoparticles induce integrated ROS-mediated apoptosis, immune modulation, and transcriptomic remodeling in 4T1 triple-negative cancer cells.Cell death discovery · 2026Article
- Saturation genome editing ofmedRxiv : the preprint server for health sciences · 2025Article
- DNA damage and repair (DDR) gene mutation profiles in driver gene wild-type advanced non-small cell lung cancer and the predictive role of response to platinum-based chemotherapy.Translational lung cancer research · 2025Article
- Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.Scientific reports · 2022Article
- Article
- SIRT2 promotes BRCA1-BARD1 heterodimerization through deacetylation.Cell reports · 2021Article
- Article
- p50 mono-ubiquitination and interaction with BARD1 regulates cell cycle progression and maintains genome stability.Nature communications · 2020Article
- BeyondJournal of clinical medicine · 2020Article
- Literature Review ofGenes · 2020Review
- Review
- Novel mutations in the RING-finger domain of3 Biotech · 2020Article
- Functional analysis of clinicalCold Spring Harbor molecular case studies · 2019Article
- Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.Breast cancer research : BCR · 2019Article
- Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity.PLoS genetics · 2019Article
- A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function.American journal of human genetics · 2018Article
- BARD1 is necessary for ubiquitylation of nucleosomal histone H2A and for transcriptional regulation of estrogen metabolism genes.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.International journal of cancer · 2017Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Genes associated with hereditary breast and ovarian cancer (HBOC) are often sequenced in search of mutations that are predictive of susceptibility to these cancer types, but the sequence results are frequently ambiguous because of the detection of missense substitutions for which the clinical impact is unknown. The BARD1 protein is the heterodimeric partner of BRCA1 and is included on clinical gene panels for testing for susceptibility to HBOC. Like BRCA1, it is required for homology-directed DNA repair (HDR). We measured the HDR function of 29 BARD1 missense variants, 27 culled from clinical test results and two synthetic variants. Twenty-three of the assayed variants were functional for HDR; of these, four are known neutral variants. Three variants showed intermediate function, and three others were defective in HDR. When mapped to BARD1 domains, residues crucial for HDR were located in the N- and C- termini of BARD1. In the BARD1 RING domain, critical residues mapped to the zinc-coordinating amino acids and to the BRCA1-BARD1 binding interface, highlighting the importance of interaction between BRCA1 and BARD1 for HDR activity. Based on these results, we propose that the HDR assay is a useful complement to genetic analyses to classify BARD1 variants of unknown clinical significance.
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