ArticlePLoS genetics2019
Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity.
Article in PLoS genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Summary ofGenes · 2020Pooled it
- Assessing the Clinical Relevance ofCurrent oncology (Toronto, Ont.) · 2026Article
- Saturation genome editing ofmedRxiv : the preprint server for health sciences · 2025Article
- BARD1: A Friend or Foe in Pancreatic Ductal Adenocarcinoma?International journal of molecular sciences · 2025Review
- A case report of recurrent endometrial cancer invading the rectum and bladder with concurrent primary rectal cancer treated with total neoadjuvant therapy and pelvic exenteration.Journal of surgical case reports · 2025Article
- Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer.Genetics in medicine open · 2025Article
- GermlineProceedings of the National Academy of Sciences of the United States of America · 2024Article
- BRCT Domains: Structure, Functions, and Implications in Disease-New Therapeutic Targets for Innovative Drug Discovery against Infections.Pharmaceutics · 2023Review
- Multiprotein Assemblies, Phosphorylation and Dephosphorylation in Neuronal Cytoskeleton.bioRxiv : the preprint server for biology · 2023Article
- Homologous recombination deficiency signatures in gastrointestinal and thoracic cancers correlate with platinum therapy duration.NPJ precision oncology · 2023Article
- Zooming into the structure-function of RING finger proteins for anti-cancer therapeutic applications.American journal of cancer research · 2023Review
- PALB2 or BARD1 loss confers homologous recombination deficiency and PARP inhibitor sensitivity in prostate cancer.NPJ precision oncology · 2022Article
- BARD1 mystery: tumor suppressors are cancer susceptibility genes.BMC cancer · 2022Review
- Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.Scientific reports · 2022Article
- The functional impact of BRCA1 BRCT domain variants using multiplexed DNA double-strand break repair assays.American journal of human genetics · 2022Article
- Article
- The BRCA1/BARD1 ubiquitin ligase and its substrates.The Biochemical journal · 2021Review
- Homologous Recombination Deficiency: Cancer Predispositions and Treatment Implications.The oncologist · 2021Review
- Breast Cancer Predisposition Genes and Synthetic Lethality.International journal of molecular sciences · 2021Review
- The Quandary of DNA-Based Treatment Assessment in De Novo Metastatic Prostate Cancer in the Era of Precision Oncology.Journal of personalized medicine · 2021Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
The BARD1 protein, which heterodimerizes with BRCA1, is encoded by a known breast cancer susceptibility gene. While several BARD1 variants have been identified as pathogenic, many more missense variants exist that do not occur frequently enough to assign a clinical risk. In this paper, whole exome sequencing of over 10,000 cancer samples from 33 cancer types identified from somatic mutations and loss of heterozygosity in tumors 76 potentially cancer-associated BARD1 missense and truncation variants. These variants were tested in a functional assay for homology-directed repair (HDR), as HDR deficiencies have been shown to correlate with clinical pathogenicity for BRCA1 variants. From these 76 variants, 4 in the ankyrin repeat domain and 5 in the BRCT domain were found to be non-functional in HDR. Two known benign variants were found to be functional in HDR, and three known pathogenic variants were non-functional, supporting the notion that the HDR assay can be used to predict the clinical risk of BARD1 variants. The identification of HDR-deficient variants in the ankyrin repeat domain indicates there are DNA repair functions associated with this domain that have not been closely examined. In order to examine whether BARD1-associated loss of HDR function results in DNA damage sensitivity, cells expressing non-functional BARD1 variants were treated with ionizing radiation or cisplatin. These cells were found to be more sensitive to DNA damage, and variations in the residual HDR function of non-functional variants did not correlate with variations in sensitivity. These findings improve the understanding of BARD1 functional domains in DNA repair and support that this functional assay is useful for predicting the cancer association of BARD1 variants.
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Registered trials
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