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Gene | BARD1 |
Variant | W146C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BARD1 W146C lies within the Rad51-interacting domain of the Bard1 protein (PMID: 28976962). W146C retains the ability to bind Brca1 (PMID: 26350354), but results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 W146C |
Transcript | NM_000465.4 |
gDNA | chr2:g.214781436C>A |
cDNA | c.438G>T |
Protein | p.W146C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465 | chr2:g.214781436C>A | c.438G>T | p.W146C | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214781436C>A | c.438G>T | p.W146C | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214781436C>A | c.438G>T | p.W146C | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214781436C>A | c.438G>T | p.W146C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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 |