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BIOMARKER:

POLE mutation

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Other names: POLE1, DNA Polymerase Epsilon Catalytic Subunit, DNA Polymerase Epsilon Catalytic Subunit A, Polymerase (DNA) Epsilon Catalytic Subunit, DNA Polymerase II Subunit A, Polymerase (DNA Directed) Epsilon Catalytic Subunit, DNA Polymerase Epsilon Catalytic Subunit Protein, Polymerase (DNA Directed) Epsilon
Entrez ID:
Related biomarkers:
5d
FIGO 2023 staging system with/without molecular classification vs. FIGO 2009 in 172 endometrial cancer patients. (PubMed, Arch Gynecol Obstet)
Molecular classification is prognostically essential in endometrial carcinoma. The integrated FIGO 2023 m system appears to enhance risk stratification relative to FIGO 2009 and non-molecular FIGO 2023. Formal comparison of staging systems is needed to confirm this improvement.
Clinical • Retrospective data • Journal
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POLE (DNA Polymerase Epsilon)
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POLE mutation
7d
Diagnostic accuracy of the droplet digital PCR POLE mutation test in endometrial cancer: comparison with Sanger sequencing and NGS. (PubMed, J Gynecol Oncol)
ddPCR demonstrated superior sensitivity and specificity in detecting POLE mutations compared to Sanger sequencing and showed perfect agreement with NGS. With its rapid turnaround, simplicity, and cost-effectiveness, ddPCR is highly suitable for routine clinical use, potentially enhancing patient management and outcomes in EC.
Journal • Next-generation sequencing
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POLE (DNA Polymerase Epsilon)
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POLE mutation
11d
MRI and Endometrial Cancer After FIGO 2023-What's New? A Narrative Review. (PubMed, Cancers (Basel))
Radiomics and deep-learning models have demonstrated high accuracy in predicting LVSI, DMI, nodal metastasis, and molecular subtypes, offering non-invasive biomarkers aligned with FIGO 2023 prognostic categories. Together, these advances position MRI as a quantitatively enriched, biologically relevant tool that supports precision oncology in endometrial cancer.
Review • Journal
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POLE (DNA Polymerase Epsilon)
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TP53 mutation • POLE mutation
11d
Prognostic Stratification of Multiple-Classifier Endometrial Cancers: Cohort Study and Meta-Analysis. (PubMed, Cancers (Basel))
Multiple-classifier ECs represent a small but clinically relevant subset encompassing biologically heterogeneous entities. Our findings highlight the limitations of current molecular classification hierarchies and underscore the need for harmonized molecular testing and standardized reporting to improve risk stratification and the management of multiple-classifier ECs.
Retrospective data • Journal • Tumor mutational burden
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon)
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TMB-H • POLE mutation
11d
A Novel Self-Competitive Fishing Primer qPCR Approach for Efficient POLE Mutation Detection in Endometrial Cancer Molecular Classification. (PubMed, Curr Issues Mol Biol)
Importantly, results from all endometrial cancer cases showed complete concordance with NGS analysis for the 11 pathogenic POLE-EDM points tested. This cost-effective and efficient SCF primer qPCR system provides an accessible method for routine molecular classification of endometrial cancer in clinical settings, offering a practical alternative to NGS for detecting pathogenic POLE mutations and supporting clinical decision-making.
Journal
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POLE (DNA Polymerase Epsilon)
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POLE mutation
11d
ATM immunohistochemistry as an effective screening method for POLE variants among endometrial carcinomas lacking mismatch repair deficiency and p53 abnormalities. (PubMed, J Pathol Clin Res)
Notably, the null pattern appeared exclusively in ECs with pathogenic POLE mutations. These results suggest that ATM IHC staining is an effective screening tool for identifying patients who may benefit from confirmatory POLE sequencing among those lacking MMR deficiency or p53 abnormalities.
Journal • Mismatch repair • Tumor mutational burden
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TMB (Tumor Mutational Burden) • ATM (ATM serine/threonine kinase) • POLE (DNA Polymerase Epsilon)
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TMB-H • POLE mutation
12d
The progesterone paradigm: Molecular prognostication in conservative management of endometrial cancer. (PubMed, Gynecol Oncol)
Selecting candidates for nonsurgical management of endometrial cancer remains challenging. The association of myometrial invasion to response illustrates the importance of pretreatment imaging. Given non-response in 3 of 4 MMRd and both p53 mutated tumors, molecular testing should be considered in all these patients.
Journal
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TP53 (Tumor protein P53) • POLE (DNA Polymerase Epsilon)
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TP53 mutation • POLE mutation
12d
Prevalence and Survival Outcomes of L1 Cell Adhesion Molecule-Positive in Endometrial Cancer Across Molecular Subtypes: A Systematic Review and Meta-Analysis. (PubMed, JCO Glob Oncol)
The highest prevalence of L1CAM was found in p53abn endometrial tumors. L1CAM positivity is associated with poor survival outcomes, particularly in MMR-D and NSMP subgroups. These findings highlight the potential of L1CAM as a prognostic biomarker that could refine risk stratification and guide adjuvant management more accurately in endometrial cancer, warranting validation in prospective studies.
Clinical • Retrospective data • Review • Journal
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POLE (DNA Polymerase Epsilon) • L1CAM (L1 cell adhesion molecule)
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TP53 mutation • TP53 wild-type • POLE mutation
13d
A Phase II Trial of Olaparib Plus Pembrolizumab in Patients with Recurrent Copy-Number High/p53-Abnormal Endometrial Cancer. (PubMed, Clin Cancer Res)
The combination of olaparib plus pembrolizumab has promising activity with durable responses in patients with persistent or recurrent CN-H/p53-abnormal endometrial cancer. Molecular biomarkers may be helpful for patient selection in future studies of this combination.
P2 data • Journal • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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TP53 (Tumor protein P53) • HRD (Homologous Recombination Deficiency) • POLE (DNA Polymerase Epsilon)
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TP53 mutation • POLE mutation
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Keytruda (pembrolizumab) • Lynparza (olaparib)
21d
Molecular profiling of breast cancer in native American women reveals distinct genomic and transcriptomic features. (PubMed, NPJ Precis Oncol)
We also noted contrasts in nucleotide-excision-repair involvement (ERCC5/POLE mutations vs ERCC1/CUL4A CNV gains), and mutational-signature analysis indicated greater MMR- and AID/POLE-associated exposures in the White cohort. To our knowledge, this study provides an initial multi-omics characterization of breast tumors from Native American women and offers a resource and hypotheses for larger, harmonized studies to assess prognostic and therapeutic relevance.
Journal • BRCA Biomarker
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PD-L1 (Programmed death ligand 1) • POLE (DNA Polymerase Epsilon) • ERCC1 (Excision repair cross-complementation group 1) • BRCA (Breast cancer early onset) • HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1) • ARID1B (AT-Rich Interaction Domain 1B) • CUL4A (Cullin 4A) • NOTCH4 (Notch 4) • ERCC5 (ERCC Excision Repair 5 Endonuclease 2) • HLA-B (Major Histocompatibility Complex, Class I, B) • HLA-DRB5 (Major Histocompatibility Complex, Class II, DR Beta 5)
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POLE mutation
25d
Screening, Prognostic, and Predictive Molecular Tools for Colorectal Cancer: Recent Advances in the Classical Background. (PubMed, Int J Mol Sci)
These molecular tools have the potential to change how CRC is managed by earlier detection and more precise predictive biomarkers. However, large-scale validation and clinical standardization are still crucial for their extensive utilization.
Review • Journal • Tumor mutational burden • MSi-H Biomarker • IO biomarker
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HER-2 (Human epidermal growth factor receptor 2) • BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • POLD1 (DNA Polymerase Delta 1)
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MSI-H/dMMR • BRAF mutation • HER-2 amplification • POLE mutation • RAS mutation • POLD1 mutation
26d
Enrollment change
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EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • MET (MET proto-oncogene, receptor tyrosine kinase) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • POLD1 (DNA Polymerase Delta 1)
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HER-2 positive • MSI-H/dMMR • KRAS G12C • HER-2 amplification • HER-2 mutation • MET amplification • POLE mutation • KRAS wild-type • RAS wild-type • KRAS G12 • POLD1 mutation • HER-2 positive + HER-2 overexpression • HER-2 positive + RAS wild-type
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Opdivo (nivolumab) • Imfinzi (durvalumab) • Vectibix (panitumumab) • Enhertu (fam-trastuzumab deruxtecan-nxki) • Lumakras (sotorasib) • balstilimab (AGEN2034) • botensilimab (AGEN1181) • vorbipiprant (CR6086)