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Gene

POLE

POLE is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (28), Actionable biomarkers (3), Trial mentions (73), and 7 more evidence types, each linked to its source.

Ensembl ENSG00000177084 UniProt Q07864 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 28 Actionable biomarkers Actionable biomarkers 3 Trial mentions Trial mentions 73 Target-disease associations Target-disease associations 518 Vendor sourcing Vendor sourcing 308 Trial-cited literature Trial-cited literature 11 Protein variant mentions Protein variant mentions 260 Human sample screening reference Human sample screening reference 2 Assay-provider ledger Assay-provider ledger 28 Actionable biomarkers Actionable biomarkers 3 Trial mentions Trial mentions 73 Target-disease associations Target-disease associations 518 Vendor sourcing Vendor sourcing 308 Trial-cited literature Trial-cited literature 11 Protein variant mentions Protein variant mentions 260 Human sample screening reference Human sample screening reference 2

Rows recorded per section (log scale)

2 more sections with rows · 2 sections measured, none recorded

Cancer actionable (CGI)

Curated as clinically actionable in cancer by the Cancer Genome Interpreter.

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The PDF carries up to 50 rows of each section, where the page shows the first few, with the sources listed. Enter a work email and confirm it from the message we send, and the report follows by email.

Evidence over time

Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention POLE. The denominator is documents that mention any gene, not every registered document, so improving the matcher moves both halves and never rewrites history. Gene named in free-text trial records. A mention, not a validated biomarker. Actionable-biomarker and target-disease-association evidence carries no date in our sources, so it is not on this chart. Publication mentions cover only papers cited by a registered clinical trial, not all of PubMed.

Trial mentions: plotted from 1990 to 2026, the years our matched corpus covers. Not plotted: 1 with a planned future start.

Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers.

The yearly numbers
POLE per year, by evidence type, the most recent 10 years, newest first; the chart covers 1990 to 2026. The share is of the trials and papers our biomarker dictionary matched that year, not of the literature at large, and a blank year is one our matched corpus does not cover at all.
Year Trial mentions Share of that year Publication mentions Share of that year
2026 15 of 8,738 0.17% not measured
2025 10 of 8,875 0.11% not measured
2024 6 of 8,597 0.07% not measured
2023 9 of 8,275 0.11% 0 of 11,460 0.00%
2022 5 of 8,285 0.06% 1 of 13,598 0.01%
2021 6 of 8,692 0.07% 0 of 15,045 0.00%
2020 4 of 7,640 0.05% 2 of 14,459 0.01%
2019 2 of 7,300 0.03% 0 of 12,159 0.00%
2018 6 of 6,927 0.09% 1 of 11,854 0.01%
2017 6 of 6,558 0.09% 1 of 11,595 0.01%

Assay-provider ledger (28)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
Diatech Pharmacogenetics Diagnostic provider Clinical validation 1 July 01, 2026
Leica BioSystems Unclassified Clinical validation 1 July 01, 2026
QIAGEN Reagent supplier Clinical validationAnalytical validation 3 July 01, 2026
THERMO FISHER SCIENTIFIC (Click-iT EdU kit, TaqMan Low-Density Array reagents, ExpressionSuite/DataAssist software) Reagent supplier Clinical validationAnalytical validation 2 July 01, 2026
Foundation Medicine Diagnostic provider Clinical validation 1 October 01, 2025

Actionable biomarkers (3)

Shown in this order: fixed catalogue order, not ranked.

Actionable biomarkers
Alteration Drug Response Disease Source
POLE oncogenic mutation Pd1 Ab Inhibitors response-associated colorectal adenocarcinoma Cancer Genome Interpreter
POLE (268-471) Pd1 Ab Inhibitors response-associated endometrial carcinoma Cancer Genome Interpreter
POLE (268-471) Pd1 Ab Inhibitors response-associated glioma Cancer Genome Interpreter

Trial mentions (73)

Shown in this order: fixed catalogue order, not by date.

Trial mentions
Trial Source
NCT07775859 Trial biospecimen (AACT)
NCT07642323 Trial eligibility (AACT)
NCT06772415 Trial eligibility (AACT)
NCT07209449 Trial eligibility (AACT)
NCT04500548 Trial eligibility (AACT)

Target-disease associations (518)

Shown in this order: fixed catalogue order, not ranked.

Target-disease associations
Disease Therapeutic area Source
AIDS dementia infectious disease Literature (Europe PMC)
APC-related attenuated familial adenomatous polyposis cancer or benign tumor Mouse knockout (IMPC)
AXIN2-related attenuated familial adenomatous polyposis cancer or benign tumor Mouse knockout (IMPC)
Alpha-1-antitrypsin deficiency gastrointestinal disease Mouse knockout (IMPC)
Alpha-thalassemia - myelodysplastic syndrome genetic, familial or congenital disease Mouse knockout (IMPC)

Vendor sourcing (308)

Shown in this order: alphabetical by organization.

Vendor sourcing
Organization Role Tier Evidence Citation
3billion, Inc. (South Korea) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The variant is not observed in the gnomAD v2.1.1 dataset. Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal pro... View ClinVar record SCV002521185.1
ARUP Laboratories (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The POLE c.4057A>G; p.Ser1353Gly variant (rs141619382) is reported in the literature in individuals affected with cancer, but without clear disease associati... View ClinVar record SCV003800455.3
AbbVie Inc. Trial collaborator Named in trial inclusion criteriaTrial eligibility criteria : * Patients must have a histologically documented (either primary or metastatic site) diagnosis of advanced solid tumor cancer (stage IV or unresectable) o... View trial NCT03061188
AbbVie Inc. Trial collaborator Mentioned in trial textTrial free-text mention POLE View trial NCT03061188
Agenus Inc Trial collaborator Named in trial exclusion criteriaTrial eligibility criteria : * Presence of metastatic or recurrent disease. * Known DNA polymerase epsilon (POLE) or DNA polymerase delta (POLD) activating mutation. * R1 (microscopic... View trial NCT07227636

Trial-cited literature (11)

Shown in this order: newest first, then most cited.

Trial-cited literature
Publication Journal Year Citations
Functional landscapes of POLE and POLD1 mutations in checkpoint blockade-dependent antitumor immunity. Nature genetics 2022 63
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. Journal of clinical immunology 2020 805
Molecular-Biology-Driven Treatment for Metastatic Colorectal Cancer. Cancers 2020 31
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. Journal of clinical immunology 2018 580
Confirmation of ProMisE: A simple, genomics-based clinical classifier for endometrial cancer. Cancer 2017 788

Protein variant mentions (260)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A1022V 1 2015 PMID 25741868
p.A1126V 1 2016 PMID 26467025
p.A1224S 1 2015 PMID 25741868
p.A1224V 1 2015 PMID 25741868
p.A1323V 2 2015 to 2016 PMID 26467025, PMID 25741868

Human sample screening reference (2)

Shown in this order: alphabetical by variant.

Human sample screening reference
Variant GDC project Disease / site Affected cases Profiled cases Observed frequency 95% interval
p.L424V TCGA-BRCA Cystic, Mucinous and Serous Neoplasms; Adenomas and Adenocarcinomas; Fibroepithelial Neoplasms; Basal Cell Neoplasms; Ductal and Lobular Neoplasms; Epithelial Neoplasms, NOS; Squamous Cell Neoplasms; Complex Epithelial Neoplasms; Adnexal and Skin Appendage Neoplasms; Breast 1 1,098 0.09% 0.02% to 0.51%
p.L424V TCGA-UCEC Not Reported; Epithelial Neoplasms, NOS; Adenomas and Adenocarcinomas; Cystic, Mucinous and Serous Neoplasms; Corpus uteri; Uterus, NOS 1 559 0.18% 0.03% to 1.01%

Literature-extracted relations (2)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
Colorectal Neoplasms Disease associate A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine. 2015
Ovarian Neoplasms Disease associate A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine. 2015

Organizations publishing (24)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Mount Sinai Health System Hospital 5 2014 to 2022
Boston Children's Hospital Hospital 4 2014 to 2020
Government of the United States of America Government 4 2014 to 2020
Kuwait University Academic 4 2014 to 2020
St Vincent's Hospital Sydney Hospital 2 2018 to 2020

Where POLE appears

  • biological_process
  • cancer or benign tumor
  • cardiovascular disease
  • disorder of visual system
  • endocrine system disease
  • gastrointestinal disease
  • genetic, familial or congenital disease
  • immune system disease
  • infectious disease
  • measurement
  • nervous system disease
  • phenotype
  • pregnancy or perinatal disease
  • reproductive system or breast disease

412 diseases touched.

Not on this page

Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions and fda biomarker qualification projects.

Browse all biomarker evidence pages