{"entity":{"id":"palb2","kind":"target","name":"PALB2","aka":["partner and localizer of BRCA2","Partner and localizer of BRCA2","FLJ21816","FANCN"],"tldr":"PALB2 (Partner and localizer of BRCA2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor, 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, Colorectal cancer and 5 more.","summary":"Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. Strongly stimulates the DNA strand-invasion activity of RAD51, stabilises the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51.\n\nCIViC holds 12 clinical evidence items and 0 assertions across 7 variants, naming Olaparib, Rucaparib, Talazoparib and Mitomycin. Open Targets scores its association with cancer at 0.91 (direct and indirect evidence; datatypes genetic literature 0.92, affected pathway 0.89, literature 0.99, genetic association 0.96, somatic mutation 0.90). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Ovarian Epithelial Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26144","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26144"},{"label":"UniProt Q86YC2","url":"https://www.uniprot.org/uniprotkb/Q86YC2/entry"},{"label":"NCBI Gene 79728","url":"https://www.ncbi.nlm.nih.gov/gene/79728"},{"label":"Ensembl ENSG00000083093","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000083093"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","ovarian","colorectal","biliary-tract-cancer","gastric","prostate","lung-cancer","pancreatic"],"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 4 therapies; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 12 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":"PALB2","role":["drug-target","tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:26144","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26144","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86YC2","url":"https://www.uniprot.org/uniprotkb/Q86YC2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PALB2","url":"https://civicdb.org/features/15013","note":"12 evidence items, 0 assertions, 7 variants; diseases: Breast Cancer, Prostate Cancer, Pancreatic Cancer, Pancreatic Ductal Adenocarcinoma, Pancreatic Adenocarcinoma and 2 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000083093","url":"https://platform.opentargets.org/target/ENSG00000083093/associations","note":"association with cancer (MONDO_0004992) 0.91; per-cancer scores at or above 0.5: colorectal cancer 0.66, gastric cancer 0.63, prostate cancer 0.63, ovarian cancer 0.77, neuroendocrine neoplasm 0.50, acute myeloid leukaemia 0.53 (GraphQL API, CC0)"},{"label":"IntOGen PALB2","url":"https://www.intogen.org/search?gene=PALB2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:26144","ensembl":"ENSG00000083093","uniprot":"Q86YC2","entrez":"79728","biology":"Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. Strongly stimulates the DNA strand-invasion activity of RAD51, stabilises the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51. Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination. Via its WD repeats is proposed to scaffold a HR complex containing RAD51C and BRCA2 which is thought to play a role in HR-mediated DNA repair. Essential partner of BRCA2 that promotes the localisation and stability of BRCA2. Location: Nucleus (UniProt). Locus 16p12.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.87 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Ovarian cancer: Open Targets association 0.77 with ovarian cancer (MONDO_0008170); IntOGen driver in 1 cohort (OVT)","Colorectal cancer: Open Targets association 0.66 with colorectal cancer (MONDO_0005575)","Biliary tract cancer: Open Targets association 0.64 with biliary tract cancer (MONDO_0003060)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.63 with gastric cancer (MONDO_0001056)","Prostate cancer: Open Targets association 0.63 with prostate cancer (MONDO_0008315); CIViC evidence names this disease"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/palb2/","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":"biliary-tract-cancer","kind":"cancer","name":"Biliary tract cancer (all types)","route":"/cancers/biliary-tract-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":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"pancreatic","kind":"cancer","name":"Pancreatic ductal adenocarcinoma","route":"/cancers/pancreatic/"},{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"}]}}