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    GENE:

    POLE (DNA Polymerase Epsilon)

    i
    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
    5d
    NCI-2018-00115: Pembrolizumab in Treating Participants With Metastatic, Recurrent or Locally Advanced Cancer and Genomic Instability (clinicaltrials.gov)
    P2, N=21, Active, not recruiting, Rutgers, The State University of New Jersey | Recruiting --> Active, not recruiting | N=40 --> 21 | Trial completion date: Oct 2023 --> Sep 2027
    Enrollment closed • Enrollment change • Trial completion date • Pan tumor
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    PD-L1 (Programmed death ligand 1) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • POLE (DNA Polymerase Epsilon) • POLD1 (DNA Polymerase Delta 1)
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    BRCA1 mutation • POLD1 mutation
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    Keytruda (pembrolizumab)
    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
    9d
    LEAH: Cohort Evaluation of Body Fluids Early Detection of Cancer in High-risk Individuals (clinicaltrials.gov)
    P=N/A, N=5909, Recruiting, Gustave Roussy, Cancer Campus, Grand Paris | Not yet recruiting --> Recruiting
    Enrollment open
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • POLE (DNA Polymerase Epsilon) • RUNX1 (RUNX Family Transcription Factor 1) • BAP1 (BRCA1 Associated Protein 1) • ETV6 (ETS Variant Transcription Factor 6) • MLH1 (MutL homolog 1) • CDK4 (Cyclin-dependent kinase 4) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • CDH1 (Cadherin 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • RAD51D (RAD51 paralog D) • DDX41 (DEAD-Box Helicase 41) • GATA2 (GATA Binding Protein 2) • DICER1 (Dicer 1 Ribonuclease III) • FLCN (Folliculin) • PRSS1 (Serine Protease 1) • SDHD (Succinate Dehydrogenase Complex Subunit D) • TXNIP (Thioredoxin Interacting Protein) • ANKRD26 (Ankyrin Repeat Domain Containing 26) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • HOXB13 (Homeobox B13)
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    TP53 mutation • PTEN deletion
    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
    Functional Characterization of POLE1 Variant Fibroblasts Reveals Replication Stress and Increased Sensitivity to Genotoxic Stress. (PubMed, Diseases)
    Collectively, these findings provide the first functional characterization of a patient-derived POLE1-variant fibroblast cell line and indicate that altered Pol ε function may influence cellular responses to genotoxic stress. While based on primary fibroblasts from a single compound-heterozygous patient, validation in additional patient-derived or isogenic models will be required to determine the broader relevance of these findings.
    Journal
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    POLE (DNA Polymerase Epsilon) • RAD51 (RAD51 Homolog A)
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    cisplatin
    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
    An intriguing journey into the hereditary syndromes predisposing to endometrial cancer: more than believed. (PubMed, Ther Adv Med Oncol)
    Genetics has been shown to affect several aspects of disease, including carcinogenesis, onset age, clinicopathological features, prognosis, and therapy response. In this review, we will investigate the impact of germline PVs in different genes on genetic susceptibility to the development of inherited EC, discussing the potential cancer risk in mutation carriers as well as prognostic implications and current therapeutic approaches, also evaluating the possibility of carrying out a more extensive routine genetic analysis for EC women, in order to increase the diagnostic power, improve prevention and surveillance strategies in genetically predisposed subjects, and implement tailored therapies.
    Review • Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • POLD1 (DNA Polymerase Delta 1) • MUTYH (MutY homolog)