OncoSignal
Live from Open Targets Platform, fetched 2026-11-11 16:26 UTC. Every row links to its source record.

BRCA1 BRCA1 DNA repair associated

ENSG00000012048 · protein coding · Open Targets profile

E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage (PubMed:10500182, PubMed:12887909, PubMed:12890688, PubMed:14976165, PubMed:16818604, PubMed:17525340, PubMed:19261748). It is unclear whether it also mediates the formation of other types of polyubiquitin chains (PubMed:12890688). The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability (PubMed:12890688, PubMed:14976165, PubMed:20351172). Regulates centrosomal microtubule nucleation (PubMed:18056443). Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle (PubMed:10724175, PubMed:11836499, PubMed:12183412, PubMed:19261748). Required for FANCD2 targeting to sites of DNA damage (PubMed:12887909). Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation (PubMed:16326698). Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks (PubMed:19369211). Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8 (PubMed:16818604). Acts as a transcriptional activator (PubMed:20160719). {ECO:0000269|PubMed:10500182, ECO:0000269|PubMed:10724175, ECO:0000269|PubMed:11836499, ECO:0000269|PubMed:12183412, ECO:0000269|PubMed:12887909, ECO:0000269|PubMed:12890688, ECO:0000269|PubMed:14976165, ECO:0000269|PubMed:16326698, ECO:0000269|PubMed:16818604, ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:18056443, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:19369211, ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:20351172}.

In 14 of 15 cancers, the evidence for BRCA1 comes mainly from inherited variants

Each row is a cancer, strongest overall evidence first. The two dots show how strong the inherited (germline) and tumour-mutation (somatic) evidence is; the line between them is the gap.

Inherited (germline) variantsMutations in tumours (somatic)
00.250.50.751breast cancerbreast cancerbreast cancer: germline 0.99hereditary breast ovarian cancer syndro…hereditary breast ovarian cancer syndromehereditary breast ovarian cancer syndrome: germline 0.92ovarian cancerovarian cancerovarian cancer: somatic 0.87ovarian cancer: germline 0.91breast neoplasmbreast neoplasmbreast neoplasm: somatic 0.79breast neoplasm: germline 0.97breast-ovarian cancer, familial, suscep…breast-ovarian cancer, familial, susceptibility to, 1breast-ovarian cancer, familial, susceptibility to, 1: somatic 0.95breast-ovarian cancer, familial, susceptibility to, 1: germline 0.97ovarian neoplasmovarian neoplasmovarian neoplasm: somatic 0.87ovarian neoplasm: germline 0.95breast carcinomabreast carcinomabreast carcinoma: somatic 0.46breast carcinoma: germline 0.97BRCA1-related cancer predispositionBRCA1-related cancer predispositionBRCA1-related cancer predisposition: germline 0.96hereditary breast carcinomahereditary breast carcinomahereditary breast carcinoma: somatic 0.55hereditary breast carcinoma: germline 0.95pancreatic cancer, susceptibility to, 4pancreatic cancer, susceptibility to, 4pancreatic cancer, susceptibility to, 4: germline 0.93ovarian carcinomaovarian carcinomaovarian carcinoma: somatic 0.46ovarian carcinoma: germline 0.78familial pancreatic carcinomafamilial pancreatic carcinomafamilial pancreatic carcinoma: germline 0.86female reproductive organ cancerfemale reproductive organ cancerfemale reproductive organ cancer: germline 0.96urinary bladder carcinomaurinary bladder carcinomaurinary bladder carcinoma: somatic 0.77hereditary neoplastic syndromehereditary neoplastic syndromehereditary neoplastic syndrome: germline 0.95

Scores run from 0 (no evidence) to 1 (strongest). A missing dot at 0 means Open Targets holds no evidence of that kind. Source: Open Targets Platform, fetched live.

Tractability

Small molecule
Druggable Family
Antibody
GO CC high conf
PROTAC
UniProt Ubiquitination, Database Ubiquitination, Small Molecule Binder

gnomAD loss of function constraint: o/e 0.8061800003051758 (upper bound 0.927590012550354). Low values mean loss of function is poorly tolerated, a safety flag for inhibition.

Who runs trials of these drugs

No named investigators on registry trials of BRCA1's approved or late-stage drugs in the last three years.

No terminated, withdrawn or suspended trials of BRCA1's drugs are registered

All 0 drugs and clinical candidates as a table

Each drug, stage and indication links to its Open Targets record, where the trials and approvals behind it are listed. Salt forms (for example a mesylate) are listed as Open Targets records them, as separate entries.

DrugTypeHighest stageIndicationsSource records
No drugs or clinical candidates recorded.