BARD1
BARD1 (BRCA1-associated RING domain protein 1) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Ovarian cancer, Gastric & gastro-oesophageal junction cancer and 5 more.
Overview
E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage.
CIViC holds 3 clinical evidence items and 0 assertions across 3 variants, naming Olaparib, Gemcitabine and Carboplatin. Open Targets scores its association with cancer at 0.87 (direct and indirect evidence; datatypes genetic literature 0.81, affected pathway 0.91, literature 0.99, genetic association 0.82, somatic mutation 0.81, animal model 0.27). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Prostate Adenocarcinoma.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · BARD1 (BRCA1-associated RING domain protein 1) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Ovarian cancer, Gastric & gastro-oesophageal junction cancer and 5 more.
- 1 · What it is
BARD1 (BRCA1-associated RING domain protein 1) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Ovarian cancer, Gastric & gastro-oesophageal junction cancer and 5 more.
- 2 · What goes wrong in cancer
E3 ubiquitin-protein ligase.
- 3 · How drugs use it
No product in this corpus aims at BARD1 yet. Drugs fit a pocket that exists only in one shape of the mutant protein and hold it there, off.
External identifiers
Sources: HGNC HGNC:952 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q99728 (protein name, function text, keywords and locations (REST API)); CIViC gene BARD1 (3 evidence items, 0 assertions, 3 variants; diseases: Colorectal Cancer, Lung Adenocarcinoma, Castration-resistant Prostate Carcinoma (GraphQL API, CC0)); Open Targets ENSG00000138376 (association with cancer (MONDO_0004992) 0.87; per-cancer scores at or above 0.5: gastric cancer 0.63, ovarian cancer 0.71, neuroblastoma 0.58, skin cancer 0.51, breast cancer 0.80, lung cancer 0.54 (GraphQL API, CC0)); IntOGen BARD1 (driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Biology
E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumour suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage. Location: Nucleus (UniProt). Locus 2q35 (HGNC).
- Breast cancer: Open Targets association 0.80 with breast cancer (MONDO_0007254)
- Ovarian cancer: Open Targets association 0.71 with ovarian cancer (MONDO_0008170)
- Gastric & gastro-oesophageal junction cancer: Open Targets association 0.63 with gastric cancer (MONDO_0001056)
- Colorectal cancer: CIViC evidence names this disease
- Prostate cancer: CIViC evidence names this disease; IntOGen driver in 1 cohort (PRAD)
- Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 3 clinical evidence items on its variants; UniProt keyword "DNA repair". Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery for this target: (TITLE:"BARD1" OR ABSTRACT:"BARD1" OR TITLE:"BRCA1 associated RING domain 1" OR ABSTRACT:"BRCA1 associated RING domain 1" OR TITLE:"BRCA1-associated RING domain protein 1" OR ABSTRACT:"BRCA1-associated RING domain protein 1") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about BARD1, not a curated reading list.
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