Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.F367S
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POLE

NM_006231.4:p.F367S

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

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

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

Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.

Riviere-Cazaux C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39715486 (PubMed )
Supplement: ccr-24-1814_supplemental_table_2_suppts2.xlsx › Sheet1

Patient-derived colorectal microtumors predict response to anti-PD-1 therapy.

Nguyen DT et al.

Frontiers in Immunology, 2025

Mutation profile and molecular heterogeneity in mismatch repair deficient endometrial carcinoma.

Cai Y et al.

Frontiers in Oncology, 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

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

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

Ostroverkhova D et al.

Cell Reports, 2024

38219146 (PubMed )
Supplement: NIHMS1961519-supplement-6.xlsx › Table_S13

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

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

Mur P et al.

Genome Medicine, 2023

37848928 (PubMed )
Supplement: 13073_2023_1234_MOESM5_ESM.xlsx › Table_S5

Replication DNA polymerases, genome instability and cancer therapies.

Strauss JD et al.

Nar Cancer, 2023

In-silico analysis of TCGA data showing multiple POLE-like favourable subgroups overlapping with TP53 mutated endometrial cancer: Implications for clinical practice in low and middle-income countries.

Das Ghosh D et al.

Gynecologic Oncology Reports, 2023

37293351 (PubMed )
Supplement: mmc2.xlsx › POLE

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

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

A novel somatic mutation in POLE exonuclease domain associated with ultra-mutational signature and MMR deficiency in endometrial cancer: a case report.

Cui J et al.

Diagnostic Pathology, 2023

Shared Cancer Dataset Analysis Identifies and Predicts the Quantitative Effects of Pan-Cancer Somatic Driver Variants.

Landau J et al.

Cancer Research, 2023

Enhanced polymerase activity permits efficient synthesis by cancer-associated DNA polymerase ϵ variants at low dNTP levels.

Barbari SR et al.

Nucleic Acids Research, 2022

Phase II study of durvalumab monotherapy in patients with previously treated microsatellite instability-high/mismatch repair-deficient or POLE-mutated metastatic or unresectable colorectal cancer.

Oh CR et al.

International Journal of Cancer, 2022

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_9.xlsx › Sheet1

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

Rousseau B et al.

Cancer Discovery, 2022

Prospective molecular classification of endometrial carcinomas: institutional implementation, practice, and clinical experience.

Devereaux KA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

Additive effects of variants of unknown significance in replication repair-associated DNA polymerase genes on mutational burden and prognosis across diverse cancers.

Ying J et al.

Journal for Immunotherapy of Cancer, 2021

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_2

Endometrial cancer with a POLE mutation progresses frequently through the type I pathway despite its high-grade endometrioid morphology: a cohort study at a single institution in Japan.

Monsur M et al.

Medical Molecular Morphology, 2021

Complete Response to Pembrolizumab in Advanced Colon Cancer Harboring Somatic POLE F367S Mutation with Microsatellite Stability Status: A Case Study.

Chen J et al.

Oncotargets and Therapy, 2021

Patient-derived organoids reflect the genetic profile of endometrial tumors and predict patient prognosis.

Berg HF et al.

Communications Medicine, 2021

Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.

Galati MA et al.

Cancer Research, 2020

Comprehensive analysis of indels in whole-genome microsatellite regions and microsatellite instability across 21 cancer types.

Fujimoto A et al.

Genome Research, 2020

32209592 (PubMed )
Supplement: supp_gr.255026.119_Supplemental_Tables.xlsx › Table_S11

Interpretation of somatic POLE mutations in endometrial carcinoma.

León-Castillo A et al.

The Journal of Pathology, 2020

Clinicopathological and molecular characterisation of 'multiple-classifier' endometrial carcinomas.

León-Castillo A et al.

The Journal of Pathology, 2020

Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer.

Fang H et al.

Plos Genetics, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."