BARD1 Q730L
Gene Variant Detail

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Gene BARD1
Variant Q730L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BARD1 Q730L lies within BRCT domain 2 of the Bard1 protein (UniProt.org). Q730L demonstrates Brca1, Palb2, and Rad51c interaction similar to wild-type Bard1, but results in altered Bard1 subcellular localization, impaired homology-directed DNA repair activity, decreased DNA repair post-irradiation, decreased H2A ubiquitination, and increased sensitivity to olaparib and cisplatin treatment in cultured cells (PMID: 39387837).
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 Q730L

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Transcript NM_000465.4
gDNA chr2:g.214728821T>A
cDNA c.2189A>T
Protein p.Q730L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465.4 chr2:g.214728821T>A c.2189A>T p.Q730L 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 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 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 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 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...
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