{"entity":{"id":"bard1","kind":"target","name":"BARD1","aka":["BRCA1 associated RING domain 1","BRCA1-associated RING domain protein 1"],"tldr":"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.","summary":"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.\n\nCIViC 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.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:952","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:952"},{"label":"UniProt Q99728","url":"https://www.uniprot.org/uniprotkb/Q99728/entry"},{"label":"NCBI Gene 580","url":"https://www.ncbi.nlm.nih.gov/gene/580"},{"label":"Ensembl ENSG00000138376","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138376"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","ovarian","gastric","colorectal","prostate","lung-cancer","skin-cancer","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["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."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BARD1","role":["drug-target","oncogene-driver","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:952","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:952","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99728","url":"https://www.uniprot.org/uniprotkb/Q99728/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BARD1","url":"https://civicdb.org/features/549","note":"3 evidence items, 0 assertions, 3 variants; diseases: Colorectal Cancer, Lung Adenocarcinoma, Castration-resistant Prostate Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000138376","url":"https://platform.opentargets.org/target/ENSG00000138376/associations","note":"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)"},{"label":"IntOGen BARD1","url":"https://www.intogen.org/search?gene=BARD1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA BARD1: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining lymphoma (4 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Ovarian cancer, Gastric & gastro-oesophageal junction cancer, Colorectal cancer, Prostate cancer, Lung cancer (all types), Skin cancer (all types)); Open Targets associates it with 9 specific cancer types at or above 0.5 (hereditary breast carcinoma, breast cancer, BARD1-related cancer predisposition, neuroblastoma, susceptibility to breast cancer, hereditary neoplastic syndrome and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q99728","url":"https://www.uniprot.org/uniprotkb/Q99728/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BARD1","url":"https://civicdb.org/features/549","note":"3 evidence items, 0 assertions, 3 variants; diseases: Colorectal Cancer, Lung Adenocarcinoma, Castration-resistant Prostate Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen BARD1","url":"https://www.intogen.org/search?gene=BARD1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas BARD1 tissue","url":"https://www.proteinatlas.org/ENSG00000138376-BARD1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000138376 associations","url":"https://platform.opentargets.org/target/ENSG00000138376/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:952","ensembl":"ENSG00000138376","uniprot":"Q99728","entrez":"580","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wu L.C. et al, Nat. Genet, 1996, \"Identification of a RING protein that can interact in vivo with the BRCA1 gene product\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8944023/","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).","whereFound":["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)"],"targetClass":"oncogene","prevalence":[]},"route":"/targets/bard1/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"nsclc","kind":"cancer","name":"Non-small-cell lung cancer","route":"/cancers/nsclc/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}],"paper":[{"id":"paper-couch-tnbc-germline-17-genes-jco-2015","kind":"paper","name":"Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer","route":"/key-papers/paper-couch-tnbc-germline-17-genes-jco-2015/"},{"id":"paper-shimelis-tnbc-risk-genes-jnci-2018","kind":"paper","name":"Triple-negative breast cancer risk genes identified by multigene hereditary cancer panel testing","route":"/key-papers/paper-shimelis-tnbc-risk-genes-jnci-2018/"}],"biomarker":[{"id":"hrr-gene-mutation","kind":"biomarker","name":"Homologous recombination repair gene mutation in prostate cancer","route":"/biomarkers/hrr-gene-mutation/"}]}}