{"entity":{"id":"fancc","kind":"target","name":"FANCC","aka":["FA complementation group C","Fanconi anemia group C protein","FA3"],"tldr":"FANCC (Fanconi anaemia group C protein) 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 Breast cancer, Leukaemia, Pancreatic ductal adenocarcinoma and 5 more.","summary":"DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Gemcitabine, Mitomycin, Cisplatin and Chlorambucil and others. Open Targets scores its association with cancer at 0.80 (direct and indirect evidence; datatypes genetic literature 0.85, affected pathway 0.76, literature 0.89, genetic association 0.68, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3584","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3584"},{"label":"UniProt Q00597","url":"https://www.uniprot.org/uniprotkb/Q00597/entry"},{"label":"NCBI Gene 2176","url":"https://www.ncbi.nlm.nih.gov/gene/2176"},{"label":"Ensembl ENSG00000158169","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000158169"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["breast-cancer","leukaemia","pancreatic","ovarian","colorectal","myeloproliferative-neoplasms","mds","aml"],"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 5 therapies; CIViC holds 1 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":"FANCC","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3584","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3584","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q00597","url":"https://www.uniprot.org/uniprotkb/Q00597/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FANCC","url":"https://civicdb.org/features/1811","note":"1 evidence items, 0 assertions, 1 variants; diseases: Pancreatic Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000158169","url":"https://platform.opentargets.org/target/ENSG00000158169/associations","note":"association with cancer (MONDO_0004992) 0.80; per-cancer scores at or above 0.5: colorectal cancer 0.56, ovarian cancer 0.56, acute myeloid leukaemia 0.54, myelodysplastic syndrome 0.51, myeloproliferative neoplasm 0.54, breast cancer 0.65 (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Fanconi anemia complementation group C (FANCC) 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 FANCC: RNA tissue enhanced (liver 23 nTPM); blood lineage lineage enriched (granulocytes 11 nTPM); high antibody staining in 1 normal tissue; highest cancer staining glioma (1 of 12 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Leukaemia, Pancreatic ductal adenocarcinoma, Ovarian cancer, Colorectal cancer, Myeloid neoplasms); Open Targets associates it with 4 specific cancer types at or above 0.5 (hereditary neoplastic syndrome, acute myeloid leukemia, myelodysplastic syndrome, breast cancer). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q00597","url":"https://www.uniprot.org/uniprotkb/Q00597/entry","note":"involvement in disease"},{"label":"Human Protein Atlas FANCC tissue","url":"https://www.proteinatlas.org/ENSG00000158169-FANCC/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000158169 associations","url":"https://platform.opentargets.org/target/ENSG00000158169/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3584","ensembl":"ENSG00000158169","uniprot":"Q00597","entrez":"2176","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Strathdee C.A. et al, Nature, 1992, \"Cloning of cDNAs for Fanconi's anaemia by functional complementation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1574115/","biology":"DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1. Location: Nucleus; Cytoplasm (UniProt). Locus 9q22.32 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.65 with breast cancer (MONDO_0007254)","Leukaemia: Open Targets association 0.63 with leukaemia (MONDO_0005059)","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease","Ovarian cancer: Open Targets association 0.56 with ovarian cancer (MONDO_0008170)","Colorectal cancer: Open Targets association 0.56 with colorectal cancer (MONDO_0005575)","Myeloproliferative neoplasms: Open Targets association 0.54 with myeloproliferative neoplasm (MONDO_0020076)"],"targetClass":"other","prevalence":[]},"route":"/targets/fancc/","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":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"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":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"mds","kind":"cancer","name":"Myelodysplastic syndromes / neoplasms (MDS)","route":"/cancers/mds/"},{"id":"myeloproliferative-neoplasms","kind":"cancer","name":"Myeloproliferative neoplasms (PV, ET, myelofibrosis)","route":"/cancers/myeloproliferative-neoplasms/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"pancreatic","kind":"cancer","name":"Pancreatic ductal adenocarcinoma","route":"/cancers/pancreatic/"}]}}