Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | BARD1 |
| Variant | V85M |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | BARD1 V85M lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). V85M demonstrates Bard1 subcellular localization and Brca1, Palb2, and Rad51c interaction similar to wild-type Bard1, but results in 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 V85M |
| Transcript | NM_000465.4 |
| gDNA | chr2:g.214792408C>T |
| cDNA | c.253G>A |
| Protein | p.V85M |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001282549.2 | chr2:g.214792408C>T | c.253G>A | p.V85M | RefSeq | GRCh38/hg38 |
| XM_047445350.1 | chr2:g.214792408C>T | c.253G>A | p.V85M | RefSeq | GRCh38/hg38 |
| NM_000465.4 | chr2:g.214792408C>T | c.253G>A | p.V85M | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| BARD1 V85M | breast cancer | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, a breast cancer cell line expressing BARD1 V85M was sensitive to Platinol (cisplatin) in culture, demonstrating decreased colony formation (PMID: 39387837). | 39387837 |
| BARD1 V85M | breast cancer | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, a breast cancer cell line expressing BARD1 V85M was sensitive to Lynparza (olaparib) in culture, demonstrating decreased colony formation (PMID: 39387837). | 39387837 |
| BARD1 V85M | breast cancer | sensitive | Cisplatin + Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, a breast cancer cell line expressing BARD1 V85M was sensitive to treatment with the combination of Platinol (cisplatin) and Lynparza (olaparib) in culture, demonstrating decreased colony formation (PMID: 39387837). | 39387837 |
| BARD1 V85M | ovarian cancer | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, an ovarian cancer cell line expressing BARD1 V85M was sensitive to Platinol (cisplatin) in culture, demonstrating decreased colony formation (PMID: 39387837). | 39387837 |
| BARD1 V85M | ovarian cancer | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, an ovarian cancer cell line expressing BARD1 V85M was sensitive to Lynparza (olaparib) in culture, demonstrating decreased colony formation (PMID: 39387837). | 39387837 |
| BARD1 V85M | ovarian cancer | sensitive | Cisplatin + Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, an ovarian cancer cell line expressing BARD1 V85M was sensitive to treatment with the combination of Platinol (cisplatin) and Lynparza (olaparib) in culture, demonstrating decreased colony formation (PMID: 39387837). | 39387837 |