BARD1 C71Y
Gene Variant Detail

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Gene BARD1
Variant C71Y
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BARD1 C71Y lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). C71Y confers a loss of function to the Bard1 protein as demonstrated by loss of nucleosome binding and ubiquitination of histone H2A in in vitro assays (PMID: 29367421), and reduced transcriptional repression of the estrogen metabolism genes Cyp1a1 and Cyp3a4 (PMID: 29367421) and decreased homology-directed DNA repair activity in cultured cells (PMID: 30925164).
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 C71Y

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Transcript NM_000465.4
gDNA chr2:g.214797064C>T
cDNA c.212G>A
Protein p.C71Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017004614 chr2:g.214797064C>T c.212G>A p.C71Y RefSeq GRCh38/hg38
NM_001282549.2 chr2:g.214797064C>T c.212G>A p.C71Y RefSeq GRCh38/hg38
XM_017004613 chr2:g.214797064C>T c.212G>A p.C71Y RefSeq GRCh38/hg38
XM_017004614.1 chr2:g.214797064C>T c.212G>A p.C71Y RefSeq GRCh38/hg38
NM_000465.4 chr2:g.214797064C>T c.212G>A p.C71Y RefSeq GRCh38/hg38
NM_001282545 chr2:g.214797064C>T c.212G>A p.C71Y RefSeq GRCh38/hg38
XM_017004614.2 chr2:g.214797064C>T c.212G>A p.C71Y RefSeq GRCh38/hg38
XM_017004613.2 chr2:g.214797064C>T c.212G>A p.C71Y RefSeq GRCh38/hg38
NM_000465 chr2:g.214797064C>T c.212G>A p.C71Y RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.214797064C>T c.212G>A p.C71Y RefSeq GRCh38/hg38
NM_001282549.1 chr2:g.214797064C>T c.212G>A p.C71Y RefSeq GRCh38/hg38
NM_001282545.2 chr2:g.214797064C>T c.212G>A p.C71Y RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214797064C>T c.212G>A p.C71Y RefSeq GRCh38/hg38
NM_001282549 chr2:g.214797064C>T c.212G>A p.C71Y RefSeq GRCh38/hg38
XM_017004613.1 chr2:g.214797064C>T c.212G>A p.C71Y RefSeq GRCh38/hg38
NM_001282545.1 chr2:g.214797064C>T c.212G>A p.C71Y RefSeq GRCh38/hg38

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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 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...