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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
    4d
    2023 FIGO Staging of Endometrial Cancer with Molecular Classification: Dawn and Challenges. (PubMed, J Cancer)
    However, omitting peritoneal cytology from prognostic assessment may risk undertreatment. Continued refinement in quantifying lympho-vascular space invasion (LVSI) and differentiating complex endometrial-myometrial junctions from genuine myometrial invasion remains a challenge.
    Journal
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    POLE (DNA Polymerase Epsilon)
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    POLE mutation
    5d
    RPA1, RFC1, and POLE Expression in Clear Cell Renal Cell Carcinoma: Immune and Clinical Relevance. (PubMed, Anticancer Res)
    DNA replication proteins interact with systemic inflammation and the TME in ccRCC, supporting their role as biomarkers and potential therapeutic targets.
    Journal • PD(L)-1 Biomarker • IO biomarker
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    PD-L1 (Programmed death ligand 1) • POLE (DNA Polymerase Epsilon) • CD4 (CD4 Molecule) • RPA1 (Replication Protein A1) • RFC4 (Replication Factor C Subunit 4)
    8d
    Pitfalls in MLH1 promoter methylation assessment, including POLEmut/MLH1meth endometrial adenocarcinoma. (PubMed, Pathol Res Pract)
    Comprehensive genomic profiling assay was informative, allowing for correlation of MLH1 methylation and POLE genotype results with tumor mutation burden and mutational signature. Taken together, our data highlight the need for integrated approach in endometrial carcinoma biomarker testing, integrating NGS and MLH1 promoter methylation status, the latter of which benefits from assessing both regions C and D. Finding of MLH1 promoter methylation does not rule out either Lynch syndrome or ultramutated (POLE) carcinoma.
    Journal • Tumor mutational burden
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    TMB (Tumor Mutational Burden) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1)
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    POLE mutation
    15d
    PolED: a manually curated database of functional studies of POLE and POLD1 variants reported in humans. (PubMed, Database (Oxford))
    It also includes a concise summary of functional significance for each variant. PolED aims to assist in clinical decision-making, guide personalized therapy, and promote further research.
    Journal • Tumor mutational burden • IO biomarker
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    TMB (Tumor Mutational Burden) • POLE (DNA Polymerase Epsilon) • POLD1 (DNA Polymerase Delta 1)
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    TMB-H • POLE mutation • POLD1 mutation
    16d
    Molecular profiling of endometrial cancer in Martinique reveals frequent CCNE1 amplification in poor prognosis tumors. (PubMed, Sci Rep)
    Given the ethnic origin of the Martinique population, these data suggest that CCNE1 amplification may be linked to African genetic heritage and could explain the over-incidence of non-endometrioid subtypes in these populations. Furthermore, our study contributes to addressing racial disparities in endometrial cancer outcomes by providing crucial insights into the genetic factors that may influence the prognosis of African-descended populations.
    Journal
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    TP53 (Tumor protein P53) • POLE (DNA Polymerase Epsilon) • CCNE1 (Cyclin E1)
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    TP53 mutation • POLE mutation
    16d
    Prognosis and treatment response stratification according to loss of proofreading (LOP) POLE variants. (PubMed, J Immunother Cancer)
    Identifying the subset of POLE mutations that cause LOP is critical to distinguish patients likely to respond to immunotherapy. Patients with CRC with LOP POLE mutant tumors experienced deep, sustained response to immunotherapy but were resistant to standard cytotoxic chemotherapy, in stark contrast to those with non-LOP POLE mutations.
    Retrospective data • Journal • IO biomarker
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    POLE (DNA Polymerase Epsilon)
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    POLE mutation
    17d
    GRECCAR14: Study Evaluating the Tailored Management of Locally-advanced Rectal Carcinoma (clinicaltrials.gov)
    P2/3, N=1075, Recruiting, Institut du Cancer de Montpellier - Val d'Aurelle | Trial completion date: Aug 2027 --> Aug 2026 | Trial primary completion date: Aug 2027 --> Aug 2026
    Trial completion date • Trial primary completion date
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    POLE (DNA Polymerase Epsilon)
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    5-fluorouracil • capecitabine • oxaliplatin • irinotecan • leucovorin calcium
    19d
    TCGA molecular subtypes in endometriosis-associated ovarian cancer: a systematic review and meta-analysis. (PubMed, Ann Med)
    The DFS of the p53abn subtype in CCOC was calculated (HR = 5.52, 95% CI: 3.43-8.90, p = 0.000). The TCGA subtypes of EC may exhibit similarities in prognosis between ENOC and CCOC.
    Retrospective data • Review • Journal
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    POLE (DNA Polymerase Epsilon)
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    MSI-H/dMMR • POLE mutation
    22d
    miRNA Signatures in Endometrial Cancer: Implications for Oncogenesis and Polymerase Epsilon (POLE) Mutation Status. (PubMed, Int J Mol Sci)
    Our findings reveal that EC is characterized by widespread miRNA deregulation, with a unique global down-regulation signature in POLE-mutated tumors. These results highlight the potential of miRNAs as complementary biomarkers for classification and potential targets in EC.
    Journal
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    TP53 (Tumor protein P53) • POLE (DNA Polymerase Epsilon) • MIR200B (MicroRNA 200b) • MIR200C (MicroRNA 200c) • MIR23A (MicroRNA 23a) • MIR181A1 (MicroRNA 181a-1)
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    TP53 mutation • POLE mutation
    22d
    An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results (clinicaltrials.gov)
    P=N/A, N=1000, Recruiting, Memorial Sloan Kettering Cancer Center | N=2060 --> 1000
    Enrollment change
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • EPCAM (Epithelial cell adhesion molecule) • BARD1 (BRCA1 Associated RING Domain 1) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)
    24d
    NCI-2022-09458: FOLFOX and Bevacizumab in Combination With Botensilimab and Balstilimab (3B-FOLFOX) for the Treatment of Microsatellite Stable (MSS) Metastatic Colorectal Cancer (clinicaltrials.gov)
    P1/2, N=20, Active, not recruiting, City of Hope Medical Center | Trial completion date: Oct 2025 --> Jun 2026 | Trial primary completion date: Oct 2025 --> Jun 2026
    Trial completion date • Trial primary completion date
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    POLE (DNA Polymerase Epsilon)
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    POLE mutation
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    Avastin (bevacizumab) • oxaliplatin • leucovorin calcium • balstilimab (AGEN2034) • botensilimab (AGEN1181) • fluorouracil topical
    25d
    Prognostic Biomarker of Fertility-Preserving Hormonal Therapy Based on Multigene Panel Testing for Endometrial Cancer. (PubMed, Cancer Sci)
    Most patients undergoing MPA therapy were classified as having NSMP. Genetic alterations, specifically mutations in PTEN and PIK3CA, were significantly associated with treatment outcomes, highlighting their potential as prognostic biomarkers.
    Journal
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    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • POLE (DNA Polymerase Epsilon) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)
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    MSI-H/dMMR • PIK3CA mutation • PTEN mutation • POLE mutation