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BIOMARKER:

POLE V411L

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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:
6ms
Enhanced Risk Stratification in Early-Stage Endometrial Cancer: Integrating POLE through Droplet Digital PCR and L1CAM. (PubMed, Cancers (Basel))
Integrating molecular L1CAM classification can enhance risk stratification in early-stage EC, providing valuable prognostic information to guide treatment decisions and improve patient outcomes. POLE ddPCR might be a cost-effective and easy-to-perform test as an alternative to POLE NGS.
Journal
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POLE (DNA Polymerase Epsilon) • L1CAM (L1 cell adhesion molecule)
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TP53 mutation • POLE mutation • POLE V411L • POLE A456P
10ms
Deep Amplicon Sequencing of POLE Gene Using fastGEN Technology (EACR 2023)
Together with other often requested predictive biomarkers, fastGEN kits can be easily implemented in laboratories with Illumina sequencers. A user-friendly and robust bioinformatics pipeline is based on Genovesa fastGEN platform.
Tumor mutational burden • IO biomarker
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EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • POLE (DNA Polymerase Epsilon)
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TMB-H • POLE mutation • POLE V411L • POLE P286R • POLE S459F
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TruSight Oncology 500 Assay
1year
POLE-specific variant classification strategy is critical for identifying patients who may benefit from immunotherapy (AACR 2023)
pPOLE were seen in both TB and LB across cancer types. The high rate of passenger mutations underscores the utility of this POLE-specific variant classification model. Because TMB can be underestimated when tumor purity is near the limit of detection for the assay, accurate detection and classification of pPOLE is critical for identifying patients who may benefit from immunotherapy.
Clinical • Tumor mutational burden • MSi-H Biomarker • IO biomarker
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TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon)
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MSI-H/dMMR • POLE mutation • POLE V411L • POLE P286R • POLE EDM
over1year
An in silico analysis of the impact of POLE mutations on cladribine docking. (PubMed, Eur Rev Med Pharmacol Sci)
Since P286R is a hotspot mutation in endometrioid carcinomas, patients with this variant may not respond to cladribine. Population-based pharmacogenomics studies will be required to validate our results.
Journal
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POLE (DNA Polymerase Epsilon)
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POLE mutation • POLE V411L
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cladribine
over1year
Response to Neoadjuvant Chemotherapy in High-Stage POLE-Mutated Endometrioid Carcinoma (CAP 2022)
Patients with advanced-stage POLE-mutated EC may show robust response to NACT. While some tumors may not require chemotherapy, further study is necessary to stratify POLE-mutated ECs and explore the role of chemotherapy in high-risk patients.
Clinical
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POLE (DNA Polymerase Epsilon)
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TP53 mutation • TP53 wild-type • POLE mutation • POLE V411L
over1year
Response to Neoadjuvant Chemotherapy in High-Stage POLE-Mutated Endometrioid Carcinoma (CAP 2022)
Patients with advanced-stage POLE-mutated EC may show robust response to NACT. While some tumors may not require chemotherapy, further study is necessary to stratify POLE-mutated ECs and explore the role of chemotherapy in high-risk patients.
Clinical
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POLE (DNA Polymerase Epsilon)
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TP53 mutation • TP53 wild-type • POLE mutation • POLE V411L
over2years
Clinical evaluation of a droplet digital PCR assay for detecting POLE mutations and molecular classification of endometrial cancer. (PubMed, J Gynecol Oncol)
Hotspot POLE mutations can be detected using the ddPCR assay. We suggest simultaneously evaluating POLE mutation status using ddPCR and p53/mismatch repair protein expressions using immunohistochemistry, which can rapidly and accurately determine the molecular subtype of EC.
Clinical • Journal
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TP53 (Tumor protein P53) • POLE (DNA Polymerase Epsilon)
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TP53 mutation • MSI-H/dMMR • POLE mutation • TP53 expression • POLE V411L • POLE A456P
over2years
[VIRTUAL] Clinicopathological analysis of 41 pole-mutated endometrial carcinomas (ECP 2021)
POLE-mutated ECs are typically high grade EECs in which IH, increased TILs and BN are frequently observed. Abnormal p53 expres- sion and/or loss of MMR protein expression in high grade tumours, does not exclude POLE mutations. Patients with pathogenic POLE mutations have a favourable prognosis, despite presenting advanced stage at diagnosis.
Clinical
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TP53 (Tumor protein P53) • POLE (DNA Polymerase Epsilon)
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POLE mutation • TP53 expression • POLE V411L • POLE A456P
almost3years
Frequent POLE-driven hypermutation in ovarian endometrioid cancer revealed by mutational signatures in RNA sequencing. (PubMed, BMC Med Genomics)
From the largest cohort of RNA-seq from endometrioid OC to date (n = 53), we identified six hypermutated samples likely driven by POLE (frequency, 11%). Our result suggests the clinical need to screen for POLE driver mutations in endometrioid OC, which can guide enrollment in immunotherapy clinical trials.
Journal • IO biomarker
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POLE (DNA Polymerase Epsilon)
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POLE V411L • POLE A456P
almost3years
Clinical and epigenetic features of colorectal cancer patients with somatic POLE proofreading mutations. (PubMed, Clin Epigenetics)
CRC patients with POLE proofreading mutations are rare. Such mutations are observed in younger individuals, and tumours are primarily located in the right colon. Diagnosis occurs at an earlier stage, and distinct epigenetic alterations may be associated with CD8 cell infiltration.
Clinical • Journal
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • CD8 (cluster of differentiation 8) • MLH1 (MutL homolog 1)
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KRAS mutation • BRAF mutation • POLE mutation • CD8 positive • POLE V411L • POLE P286R • POLE S459F
almost3years
[VIRTUAL] Clinicopathological and genomic characteristics of POLE-mutated colorectal cancer in a Chinese population. (ASCO 2021)
Our results realved a remarkable positive correlation between POLE mutation and TMB level in a Chinese colorectal cancer population, which suggests POLE gene will be a promising biomarker of immunotherpy for MSS colorectal tumor.
Clinical • Tumor Mutational Burden
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TMB (Tumor Mutational Burden) • POLE (DNA Polymerase Epsilon)
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TMB-H • POLE mutation • POLE V411L • POLE A456P
3years
[VIRTUAL] Artificial intelligence-powered tissue analysis reveals distinct tumor-infiltrating lymphocyte profile as a potential biomarker of molecular subtypes in endometrial cancer (AACR 2021)
The distribution of TIL in EC differs according to the molecular subtypes. Our data suggest the possibility of predicting subtypes through TIL analysis, and provide insight into treatment through TME modulation.
Tumor-Infiltrating Lymphocyte
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TP53 (Tumor protein P53) • POLE (DNA Polymerase Epsilon)
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TP53 mutation • MSI-H/dMMR • POLE mutation • TP53 expression • POLE V411L
over3years
Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups. (PubMed, BMC Med Genomics)
Targeted sequencing can predict the presence of POLE mutations based on the tumor mutational burden. However, targeted sequencing alone is inadequate to classify endometrial cancers into molecular subgroups identified by The Cancer Genome Atlas.
Journal • Tumor Mutational Burden
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TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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TP53 mutation • TMB-H • PIK3CA mutation • PTEN mutation • POLE mutation • TMB-L • MSH2 mutation • MLH1 mutation • PMS2 mutation • POLE V411L
over3years
Ultra-mutated colorectal cancer patients with POLE driver mutations exhibit distinct clinical patterns. (PubMed, Cancer Med)
The top three amino acid changes due to POLE driver mutations are P286R, V411L, and S459F. Investigators and physicians should ascertain the heterogeneity and clinical patterns of POLE driver mutations to be better equipped to design clinical trials and analyze the data.
Clinical • Journal • Tumor Mutational Burden
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TMB (Tumor Mutational Burden) • POLE (DNA Polymerase Epsilon)
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POLE mutation • POLE V411L
over3years
Morphologic, Immunophenotypic and Molecular Features of Hypermutation in Colorectal Carcinomas with Mutations in DNA Polymerase Ɛ (POLE). (PubMed, Histopathology)
A total of 4.8% CRC (four MMR-intact primary and one MMR-intact metastasis) harboured POLE mutations in amino acid 286 in exon 9 (p.P286R) or exon 13 (p.V411L). POLE-mutated CRCs arose in the transverse colon and rectum, were male-predominant, younger and showed increased tumour-infiltrating lymphocytes and immune cells at the tumour-stromal interface. The patient with metastatic POLE-mutated CRC was placed on PD-1 inhibitor treatment with marked and sustained response. These data indicate that POLE-mutated CRCs have hypermutated phenotypes despite MMR-intact status, with mutation burdens higher than that in microsatellite-unstable CRCs. Given the recent approval for treatment of microsatellite-unstable cancer with immune check-point inhibitors, assessment of POLE status may help to guide therapeutic decisions for hypermutated tumours with intact MMR that would otherwise be missed by routine testing.
Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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TMB (Tumor Mutational Burden) • POLE (DNA Polymerase Epsilon) • CD8 (cluster of differentiation 8)
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POLE mutation • POLE V411L • POLE P286R • TILs
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Immunoscore®
over3years
POLE mutation combined with microcystic, elongated and fragmented (MELF) pattern invasion in endometrial carcinomas might be associated with poor survival in Chinese women. (PubMed, Gynecol Oncol)
Although POLE mutation was associated with favorable overall survival, the combined consideration of POLE mutation status and established clinicopathologic factors in the risk assessment of endometrial cancer is more accurate than the consideration of clinicopathologic factors alone and might lead to precise and individualized therapeutic strategies.
Clinical • Journal
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POLE (DNA Polymerase Epsilon)
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POLE mutation • POLE V411L
over3years
Clinicopathological and mutational analyses of colorectal cancer with mutations in the POLE gene. (PubMed, Cancer Med)
Thus, we concluded that CRCs with POLE proofreading deficiency had characteristics distinct from those of other CRCs. Analysis of POLE proofreading deficiency may be clinically significant for personalized management of CRCs.
Clinical • Journal • PD(L)-1 Biomarker
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PD-L1 (Programmed death ligand 1) • POLE (DNA Polymerase Epsilon) • PD-1 (Programmed cell death 1)
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PD-L1 expression • POLE mutation • CD8 expression • POLE V411L
over3years
Clinical • PD(L)-1 Biomarker • IO biomarker
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POLE (DNA Polymerase Epsilon)
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POLE mutation • POLE V411L
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Opdivo (nivolumab)