Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.P286L
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POLE

NM_006231.4:p.P286L

Associated Papers

Phenotypic POLE Variant Classification Identifies Patients Who May Have Favorable Prognosis and Benefit from Immunotherapy.

Keller-Evans RB et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Molecular Classification and Clinical Outcomes in Endometrial Cancer: Real-World Evidence from a Tertiary Care Center.

Salakphet T et al.

Cancers, 2026

41595105 (PubMed )
Supplement: cancers-18-00181-s001.zip › cancers-4058929-supplementary.pdf

Preanalytical Histology Review Improves POLE Mutation Detection in Endometrial Carcinomas.

Huang H et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Genomic characterization of colorectal tumors: insights into significantly mutated genes, pathways, and survival outcomes.

Harrison TA et al.

Bmc Cancer, 2025

Comparative Analysis of Somatic and Germline Polymerase Proofreading Deficiencies in Cancer: Molecular and Clinical Implications.

Viana-Errasti J et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Comparison between a Luminex-based multiplex kit with a sequence-specific oligonucleotide probe and next-generation sequencing for the detection of POLE oncogenic mutations in endometrial cancer.

Kato MK et al.

Virchows Archiv : an International Journal of Pathology, 2025

Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.

Gibson LM et al.

International Journal of Molecular Sciences, 2025

40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S1.xlsx › S1A_COSMIC_mutation

Human DNA polymerase ε is a source of C>T mutations at CpG dinucleotides.

Tomkova M et al.

Nature Genetics, 2024

39390083 (PubMed )
Supplement: 41588_2024_1945_MOESM4_ESM.xlsx › Table6

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.

Mur P et al.

Genome Medicine, 2023

Replication DNA polymerases, genome instability and cancer therapies.

Strauss JD et al.

Nar Cancer, 2023

PD-1 Blockade in Solid Tumors with Defects in Polymerase Epsilon.

Rousseau B et al.

Cancer Discovery, 2022

Association of mutations in DNA polymerase epsilon with increased CD8+ cell infiltration and prolonged progression-free survival in patients with meningiomas.

Rutland JW et al.

Neurosurgical Focus, 2022

Clinical and Molecular Characterization of POLE Mutations as Predictive Biomarkers of Response to Immune Checkpoint Inhibitors in Advanced Cancers.

Garmezy B et al.

Jco Precision Oncology, 2022

POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.

Chen YX et al.

Clinical and Translational Medicine, 2021

34586735 (PubMed )
Supplement: CTM2-11-e524-s001.xlsx › Supplementary_Table_7

Topographic correlates of driver mutations and endogenous gene expression in pediatric diffuse midline gliomas and hemispheric high-grade gliomas.

Kazarian E et al.

Scientific Reports, 2021

Role of POLE and POLD1 in familial cancer.

Mur P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

DNA Polymerases at the Eukaryotic Replication Fork Thirty Years after: Connection to Cancer.

Pavlov YI et al.

Cancers, 2020

Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.

Hamzaoui N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Interpretation of somatic POLE mutations in endometrial carcinoma.

León-Castillo A et al.

The Journal of Pathology, 2020

Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.

Fountzilas E et al.

Oncotarget, 2018

30479693 (PubMed )
Supplement: oncotarget-09-35623-s001.pdf

Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment.

Stenzinger A et al.

Cancer Medicine, 2014

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