BARD1 V523A
Gene Variant Detail

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Gene BARD1
Variant V523A
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BARD1 V523A lies within ANK repeat 3 of the Bard1 protein (UniProt.org). V523A results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture, has been associated with increased loss of heterozygosity (LOH) in patient samples (PMID: 30925164), and results in impaired DNA repair, increased DNA damage in response to irradiation, increased production of ROS, and decreased apoptotic activity in cultured patient cells, and transformation activity in culture (PMID: 38990952), and therefore, is predicted to lead to a loss of Bard1 protein function.
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 V523A

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Transcript NM_000465.4
gDNA chr2:g.214767482A>G
cDNA c.1568T>C
Protein p.V523A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465.4 chr2:g.214767482A>G c.1568T>C p.V523A RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.214767482A>G c.1568T>C p.V523A RefSeq GRCh38/hg38
NM_000465 chr2:g.214767482A>G c.1568T>C p.V523A RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214767482A>G c.1568T>C p.V523A RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BARD1 inact mut colorectal cancer predicted - sensitive Veliparib Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line over expressing the BARD1-beta splice variant, which results in decreased Brca1 function, demonstrated sensitivity to treatment with Veliparib (ABT-888) in culture, resulting in increased apoptotic activity (PMID: 27197561). 27197561
BARD1 inact mut prostate cancer sensitive Olaparib FDA approved - On Companion Diagnostic Actionable In a Phase III trial (PROfound) that supported FDA approval, Lynparza (olaparib) treatment significantly improved median imaging-based progression-free survival (5.8 vs 3.5 mo, HR 0.49, p<0.001) compared to control in patients with metastatic castration-resistant prostate cancer who progressed on hormone therapy and harbored deleterious or suspected deleterious mutations in homologous recombination repair genes, including BARD1 (PMID: 32343890; NCT02987543). detail... 32343890 detail...
BARD1 inact mut prostate cancer sensitive Olaparib Guideline Actionable Lynparza (olaparib) is included in guidelines as second-line therapy post androgen receptor-directed therapy for patients with metastatic castration-resistant prostate cancer harboring pathogenic mutations in BARD1 (NCCN.org). detail...
BARD1 mutant breast cancer no benefit Olaparib Case Reports/Case Series Actionable In a Phase II trial (TBCRC 048), Lynparza (olaparib) treatment did not result in an objective response in a patient with metastatic breast cancer harboring a germline mutation in BARD1 (PMID: 33119476; NCT03344965). 33119476
BARD1 mutant breast cancer not applicable N/A Guideline Risk Factor Germline BARD1 mutations are associated with increased risk of developing breast cancer (NCCN.org). detail...