{"entity":{"id":"polq","kind":"target","name":"POLQ","aka":["DNA polymerase theta"],"tldr":"POLQ (DNA polymerase theta) is an enzyme. The public catalogues list it as an oncogene driver, a tumour suppressor and a DNA repair gene, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Lung cancer, Endometrial cancer, Breast cancer and 5 more.","summary":"Low-fidelity DNA polymerase with a putative helicase activity that promotes microhomology-mediated end-joining (MMEJ), an alternative non-homologous end-joining (NHEJ) machinery required to repair double-strand breaks in DNA during mitosis. MMEJ is an error-prone repair pathway that produces deletions of sequences from the strand being repaired and promotes genomic rearrangements, such as telomere fusions, some of them leading to cellular transformation. MMEJ is required during mitosis to repair persistent double-strand breaks that originate in S-phase.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.18, somatic mutation 0.84, genetic literature 0.30). IntOGen calls it a driver in 4 cohorts (1 activating, 3 loss-of-function), covering Lung Squamous Cell Carcinoma, Melanoma, Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9186","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9186"},{"label":"UniProt O75417","url":"https://www.uniprot.org/uniprotkb/O75417/entry"},{"label":"NCBI Gene 10721","url":"https://www.ncbi.nlm.nih.gov/gene/10721"},{"label":"Ensembl ENSG00000051341","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000051341"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["lung-cancer","endometrial","breast-cancer","skin-cancer","colorectal","gastric","ovarian","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["ddr","homologous-recombination-repair","synthetic-lethality-map"],"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: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; UniProt keyword \"DNA repair\". Evidence tier \"cohort-driver\" 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":"POLQ","role":["oncogene-driver","tumour-suppressor","dna-repair"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9186","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9186","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75417","url":"https://www.uniprot.org/uniprotkb/O75417/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000051341","url":"https://platform.opentargets.org/target/ENSG00000051341/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.53, colorectal cancer 0.55, gastric cancer 0.52, ovarian cancer 0.50, melanoma 0.60, skin cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen POLQ","url":"https://www.intogen.org/search?gene=POLQ","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:9186","ensembl":"ENSG00000051341","uniprot":"O75417","entrez":"10721","biology":"Low-fidelity DNA polymerase with a putative helicase activity that promotes microhomology-mediated end-joining (MMEJ), an alternative non-homologous end-joining (NHEJ) machinery required to repair double-strand breaks in DNA during mitosis. MMEJ is an error-prone repair pathway that produces deletions of sequences from the strand being repaired and promotes genomic rearrangements, such as telomere fusions, some of them leading to cellular transformation. MMEJ is required during mitosis to repair persistent double-strand breaks that originate in S-phase. Although error-prone, MMEJ protects against chromosomal instability and tumorigenesis. The polymerase acts by binding directly the 2 ends of resected double-strand breaks, allowing microhomologous sequences in the overhangs to form base pairs. It then extends each strand from the base-paired region using the opposing overhang as a template. Location: Nucleus; Chromosome (UniProt). Locus 3q13.33 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.59 with lung cancer (MONDO_0008903)","Endometrial cancer: IntOGen driver in 1 cohort (UCEC)","Breast cancer: Open Targets association 0.57 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.52 with gastric cancer (MONDO_0001056)"],"targetClass":"enzyme","prevalence":[]},"route":"/targets/polq/","neighbours":{"collection":[{"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":"endometrial","kind":"cancer","name":"Endometrial cancer","route":"/cancers/endometrial/"},{"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":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}],"pathway":[{"id":"ddr","kind":"pathway","name":"DNA damage response & homologous recombination","route":"/pathways/ddr/"},{"id":"homologous-recombination-repair","kind":"pathway","name":"Double-strand break repair: HR versus end joining","route":"/pathways/homologous-recombination-repair/"},{"id":"synthetic-lethality-map","kind":"pathway","name":"Synthetic lethality: paired dependencies","route":"/pathways/synthetic-lethality-map/"}]}}