{"entity":{"id":"nbn","kind":"target","name":"NBN","aka":["nibrin","Nibrin","AT-V2","AT-V1","NBS1"],"tldr":"NBN (Nibrin) is a gene. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Leukaemia, Breast cancer and 5 more.","summary":"Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases. The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Olaparib and GPI-15427. Open Targets scores its association with cancer at 0.85 (direct and indirect evidence; datatypes genetic literature 0.76, affected pathway 0.87, literature 0.95, genetic association 0.78, somatic mutation 0.83, animal model 0.50).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7652","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7652"},{"label":"UniProt O60934","url":"https://www.uniprot.org/uniprotkb/O60934/entry"},{"label":"NCBI Gene 4683","url":"https://www.ncbi.nlm.nih.gov/gene/4683"},{"label":"Ensembl ENSG00000104320","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104320"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["non-hodgkin-lymphoma","leukaemia","breast-cancer","ovarian","gastric","head-and-neck","sarcoma","prostate"],"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 2 therapies; CIViC holds 2 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":"NBN","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7652","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7652","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O60934","url":"https://www.uniprot.org/uniprotkb/O60934/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NBN","url":"https://civicdb.org/features/3801","note":"2 evidence items, 0 assertions, 2 variants; diseases: Ovarian Cancer, Head And Neck Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000104320","url":"https://platform.opentargets.org/target/ENSG00000104320/associations","note":"association with cancer (MONDO_0004992) 0.85; per-cancer scores at or above 0.5: colorectal cancer 0.53, gastric cancer 0.65, prostate cancer 0.55, ovarian cancer 0.67, sarcoma 0.59, acute lymphoblastic leukaemia 0.72 (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Nijmegen breakage syndrome (NBS) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA NBN: RNA low tissue specificity; high antibody staining in 1 normal tissue; highest cancer staining breast cancer (12 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia, Breast cancer (all types), Ovarian cancer, Gastric & gastro-oesophageal junction cancer, Head and neck squamous cell carcinoma, Sarcomas (soft tissue, bone, GIST) and more); Open Targets associates it with 7 specific cancer types at or above 0.5 (acute lymphoblastic leukemia, breast cancer, hereditary neoplastic syndrome, hereditary breast ovarian cancer syndrome, glioma, gastric cancer and more). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O60934","url":"https://www.uniprot.org/uniprotkb/O60934/entry","note":"involvement in disease"},{"label":"Human Protein Atlas NBN tissue","url":"https://www.proteinatlas.org/ENSG00000104320-NBN/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000104320 associations","url":"https://platform.opentargets.org/target/ENSG00000104320/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7652","ensembl":"ENSG00000104320","uniprot":"O60934","entrez":"4683","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Varon et al, Cell, 1998, \"Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9590180/","biology":"Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases. The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage. The MRN complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11, to initiate end resection, which is required for single-strand invasion and recombination. Within the MRN complex, NBN acts as a protein-protein adapter, which specifically recognises and binds phosphorylated proteins, promoting their recruitment to DNA damage sites. Recruits MRE11 and RAD50 components of the MRN complex to DSBs in response to DNA damage. Location: Nucleus; Chromosome; Nucleus, PML body; Chromosome, telomere (UniProt). Locus 8q21.3 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.76 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.72 with leukaemia (MONDO_0005059)","Breast cancer: Open Targets association 0.72 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.67 with ovarian cancer (MONDO_0008170); CIViC evidence names this disease","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.65 with gastric cancer (MONDO_0001056)","Head and neck squamous cell carcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},"route":"/targets/nbn/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"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":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"head-and-neck","kind":"cancer","name":"Head and neck squamous cell carcinoma","route":"/cancers/head-and-neck/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"}]}}