{"entity":{"id":"blm","kind":"target","name":"BLM","aka":["BLM RecQ like helicase","RecQ-like DNA helicase BLM","RECQL3","RECQ2"],"tldr":"BLM (RecQ-like DNA helicase BLM) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Leukaemia, Colorectal cancer, Breast cancer and 4 more.","summary":"ATP-dependent DNA helicase that unwinds double-stranded (ds)DNA in a 3'-5' direction. Participates in DNA replication and repair. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA.\n\nOpen Targets scores its association with cancer at 0.82 (direct and indirect evidence; datatypes genetic literature 0.64, affected pathway 0.87, literature 0.97, genetic association 0.73, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1058","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1058"},{"label":"UniProt P54132","url":"https://www.uniprot.org/uniprotkb/P54132/entry"},{"label":"NCBI Gene 641","url":"https://www.ncbi.nlm.nih.gov/gene/641"},{"label":"Ensembl ENSG00000197299","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197299"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","colorectal","breast-cancer","ovarian","skin-cancer","endometrial","non-hodgkin-lymphoma"],"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: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" 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":"BLM","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1058","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1058","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P54132","url":"https://www.uniprot.org/uniprotkb/P54132/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000197299","url":"https://platform.opentargets.org/target/ENSG00000197299/associations","note":"association with cancer (MONDO_0004992) 0.82; per-cancer scores at or above 0.5: colorectal cancer 0.62, ovarian cancer 0.58, endometrial cancer 0.53, non-Hodgkin lymphoma 0.51, skin cancer 0.54, breast cancer 0.61 (GraphQL API, CC0)"}],"hgnc":"HGNC:1058","ensembl":"ENSG00000197299","uniprot":"P54132","entrez":"641","biology":"ATP-dependent DNA helicase that unwinds double-stranded (ds)DNA in a 3'-5' direction. Participates in DNA replication and repair. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA. Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution. Binds single-stranded DNA (ssDNA), forked duplex DNA and Holliday junction DNA. Unwinds G-quadruplex DNA; unwinding occurs in the 3'-5' direction and requires a 3' single-stranded end of at least 7 nucleotides. Location: Nucleus (UniProt). Locus 15q26.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.63 with leukaemia (MONDO_0005059)","Colorectal cancer: Open Targets association 0.62 with colorectal cancer (MONDO_0005575)","Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.58 with ovarian cancer (MONDO_0008170)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Endometrial cancer: Open Targets association 0.53 with endometrial cancer (MONDO_0011962)"],"targetClass":"enzyme","prevalence":[]},"route":"/targets/blm/","neighbours":{"collection":[{"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":"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":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}