BARD1 E287fs
Gene Variant Detail

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Gene BARD1
Variant E287fs
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions BARD1 E287fs results in a change in the amino acid sequence of the Bard1 protein beginning at aa 287 of 777, likely resulting in premature truncation of the functional protein (UniProt.org). E287fs results in decreased Bard1 expression and homology-directed repair activity, increased double-strand DNA breaks, and increased sensitivity to olaparib and cisplatin in cultured cells (PMID: 37688570).
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 E287fs

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Transcript NM_000465.4
gDNA chr2:g.(214781015_214781016)
cDNA c.(859_858)
Protein p.E287fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047445350.1 chr2:g.(214781015_214781016) c.(859_858) p.E287fs RefSeq GRCh38/hg38
NM_000465.4 chr2:g.(214781015_214781016) c.(859_858) p.E287fs RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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 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 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...