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Gene Symbol | BARD1 | ||||||||||
Synonyms | |||||||||||
Gene Description | BARD1, BRCA1 associated RING domain 1, forms a heterodimer with Brca1, which functions as an E3 ubiquitin ligase and mediator of DNA repair through homology-directed repair (HDR) (PMID: 8944023, PMID: 30925164) and centrosome regulation (PMID: 29858377). Germline mutations in BARD1 are associated with increased susceptibility to breast and ovarian cancers (PMID: 21344236), somatic mutations are highest in colon and endometrial cancers (PMID: 27283171) and BARD1 has also been implicated in neuroblastoma (PMID: 32047556). | ||||||||||
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Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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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 P707S | cervical cancer | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, cisplatin treatment of HeLa cells expressing Bard1 P707S were more sensitive than wild-type Bard1 expressing cells, as demonstrated by decreased colony formation (PMID: 30925164). | 30925164 |
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 A460T | cervical cancer | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, cisplatin treatment of HeLa cells expressing Bard1 A460T were more sensitive than wild-type Bard1 expressing cells, as demonstrated by decreased colony formation (PMID: 30925164). | 30925164 |
BARD1 G753D | cervical cancer | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, cisplatin treatment of HeLa cells expressing Bard1 G753D were more sensitive than wild-type Bard1 expressing cells, as demonstrated by decreased colony formation (PMID: 30925164). | 30925164 |
BARD1 V767fs | cervical cancer | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, cisplatin treatment of HeLa cells expressing Bard1 P707S were more sensitive than wild-type Bard1 expressing cells, as demonstrated by decreased colony formation (PMID: 30925164). | 30925164 |
BARD1 D135N | breast cancer | predicted - sensitive | Fluzoparib | Preclinical - Cell culture | Actionable | In a preclinical study, Fluzoparib (SHR3162) treatment inhibited proliferation of a BARD1-deficient breast cancer cell line expressing BARD1 D135N in culture (PMID: 33933153). | 33933153 |