Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.P436R
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POLE

NM_006231.4:p.P436R

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

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Common gene mutations in 103 authenticated colorectal cancer cell lines.

Kranjec C et al.

Oncogenesis, 2026

41593049 (PubMed )
Supplement: 41389_2026_599_MOESM2_ESM.xlsx › Supplementary_Table_3

The clinical landscape of POLE-mutant colorectal cancer: a retrospective analysis of real-world outcome.

Xu T et al.

Bmc Medicine, 2026

Preanalytical Histology Review Improves POLE Mutation Detection in Endometrial Carcinomas.

Huang H et al.

The Journal of Molecular Diagnostics : Jmd, 2026

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

Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.

Huang CY et al.

Bmc Cancer, 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

Colorectal Tumors in Diverse Patient Populations Feature a Spectrum of Somatic Mutational Profiles.

Matejcic M et al.

Cancer Research, 2025

Functions, interactions and prognostic role of POLE: a bioinformatics analysis.

Carvajal-Veloza J et al.

Journal of Gynecologic Oncology, 2025

39575998 (PubMed )
Supplement: jgo-36-e45-s001.xls › jgo-36-e45-s001

Genetics, genomics and clinical features of adenomatous polyposis.

Joo JE et al.

Familial Cancer, 2025

Understanding the impact of spatial immunophenotypes on the survival of endometrial cancer patients through the ProMisE classification.

Hattori S et al.

Cancer Immunology, Immunotherapy : Cii, 2025

Morphomolecular Correlation and Clinicopathologic Analysis in Endometrial Carcinoma.

Bülbül G et al.

International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2024

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

Evaluation of the Accuracy of a Polymerase Chain Reaction-Based Assay for Polymerase Tifilon Mutation Detection in Endometrial Carcinoma.

Chen T et al.

Archives of Pathology & Laboratory Medicine, 2024

Morules and β-catenin predict POLE mutation status in endometrial cancer: A pathway to more cost-effective diagnostic procedures.

Fan R et al.

American Journal of Clinical Pathology, 2024

Endometrial carcinoma: 10 years of TCGA (the cancer genome atlas): A critical reappraisal with comments on FIGO 2023 staging.

Espinosa I et al.

Gynecologic Oncology, 2024

Immune checkpoint inhibitors for POLE or POLD1 proofreading-deficient metastatic colorectal cancer.

Ambrosini M et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2024

DNA mismatch and damage patterns revealed by single-molecule sequencing.

Liu MH et al.

Nature, 2024

Deep learning for dual detection of microsatellite instability and POLE mutations in colorectal cancer histopathology.

Gustav M et al.

Npj Precision Oncology, 2024

38783059 (PubMed )
Supplement: 41698_2024_592_MOESM1_ESM.pdf

Spectrum of somatic mutational features of colorectal tumors in ancestrally diverse populations.

Matejcic M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Specific Pathology Features Enrich Selection of Endometrial Carcinomas for POLE Testing.

Keyhanian K et al.

The American Journal of Surgical Pathology, 2024

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

DNA polymerase ε and δ variants drive mutagenesis in polypurine tracts in human tumors.

Ostroverkhova D et al.

Cell Reports, 2024

Exploring the basis of heterogeneity of cancer aggressiveness among the mutated POLE variants.

Selves J et al.

Life Science Alliance, 2024

The Clinical and Pathological Characteristics of POLE-Mutated Endometrial Cancer: A Comprehensive Review.

Yao X et al.

Cancer Management and Research, 2024

The game-changing impact of POLE mutations in oncology-a review from a gynecologic oncology perspective.

Kögl J et al.

Frontiers in Oncology, 2024

Validation of Modaplex POLE mutation assay in endometrial carcinoma.

Dorca E et al.

Virchows Archiv : an International Journal of Pathology, 2023

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.

Weber CAM et al.

Acta Neuropathologica Communications, 2023

37990341 (PubMed )
Supplement: 40478_2023_1689_MOESM1_ESM.pdf

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

Harmonized molecular classification; assessment of a single-test ProMisE NGS tool.

Jamieson A et al.

Gynecologic Oncology, 2023

Histomorphological and molecular genetic characterization of different intratumoral regions and matched metastatic lymph nodes of colorectal cancer with heterogenous mismatch repair protein expression.

Zhang J et al.

Journal of Cancer Research and Clinical Oncology, 2023

POLE-Mutant Colon Cancer Treated with PD-1 Blockade Showing Clearance of Circulating Tumor DNA and Prolonged Disease-Free Interval.

Bikhchandani M et al.

Genes, 2023

QPOLE: A Quick, Simple, and Cheap Alternative for POLE Sequencing in Endometrial Cancer by Multiplex Genotyping Quantitative Polymerase Chain Reaction.

Van den Heerik ASVM et al.

Jco Global Oncology, 2023

Utility of molecular subtypes and genetic alterations for evaluating clinical outcomes in 1029 patients with endometrial cancer.

Asami Y et al.

British Journal of Cancer, 2023

ProTarget: a Danish Nationwide Clinical Trial on Targeted Cancer Treatment based on genomic profiling - a national, phase 2, prospective, multi-drug, non-randomized, open-label basket trial.

Kringelbach T et al.

Bmc Cancer, 2023

Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.

Liu MH et al.

Biorxiv : the Preprint Server for Biology, 2023

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