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BIOMARKER:

POLE P286R

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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:
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
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
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
Germline RAD54L with somatic POLE defect implicated in Hypermutation phenotype: case report. (PubMed, BMC Gastroenterol)
This report highlights the clinical importance of next-generation sequencing technology in diagnosing rare tumours and investigating novel mechanisms for developing exceptional genetic diseases.
Clinical • Journal • Tumor Mutational Burden
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TMB (Tumor Mutational Burden) • RAD54L (DNA Repair And Recombination Protein RAD54)
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RAD54L mutation • POLE P286R
almost4years
[VIRTUAL] Tumor mutational load, microsatellite instability, BRCAness, and actionable alterations in metastatic colorectal cancer: Results from the TRIBE2 study (ESMO-GI 2020)
"Background In the TRIBE2 study, molecularly unselected and untreated mCRC patients were randomized to receive FOLFOXIRI/bevacizumab (bev) followed by the same agents after disease progression (PD) or FOLFOX/bev followed by FOLFIRI/bev after PD...Legal entity responsible for the study The author. Funding GONO Foundation."
HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • PALB2 (Partner and localizer of BRCA2) • MSH6 (MutS homolog 6) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • ATR (Ataxia telangiectasia and Rad3-related protein) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • NTRK (Neurotrophic receptor tyrosine kinase) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)
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BRAF V600E • KRAS mutation • MSI-H/dMMR • KRAS G12C • HER-2 amplification • BRAF V600 • HER-2 mutation • MET amplification • POLE mutation • KRAS G12 • MSH6 mutation • RAD50 mutation • BRAF mutation + MET amplification • POLE P286R • MSH6 F1040fs • MSH6 expression • POLE S459F
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Avastin (bevacizumab)
4years
[VIRTUAL] Tumor mutational load, microsatellite instability and actionable mutations in metastatic colorectal cancer: Results from the TRIBE2 study. (ASCO 2020)
"Background: In the TRIBE2 study molecularly unselected and untreated mCRC patients were randomized to receive FOLFOXIRI/bevacizumab (bev) followed by the same agents after disease progression (PD) or FOLFOX/bev followed by FOLFIRI/bev after PD... TML high tumors are not limited to MSI-high ones but showed POLE or MSH6 somatic mutation and shower longer PFS and OS. No differences are reported between TML low and intermediate tumors. Molecular alterations predictive of benefit from targeted strategies currently available are detectable only in a small percentage of mCRCs."
HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • POLE (DNA Polymerase Epsilon) • MSH6 (MutS homolog 6) • NTRK (Neurotrophic receptor tyrosine kinase)
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BRAF V600E • KRAS mutation • KRAS G12C • HER-2 amplification • BRAF V600 • HER-2 mutation • MET amplification • POLE mutation • KRAS G12 • MSH6 mutation • KRAS amplification • BRAF mutation + MET amplification • POLE P286R • BRAF amplification • MSH6 F1040fs • MSH6 expression • POLE S459F
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MI Tumor Seek™
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Avastin (bevacizumab)