Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.S459F
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POLE

NM_006231.4:p.S459F

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

Advances in immunotherapy for colorectal cancer: overcoming resistance in mismatch repair-proficient tumors.

Keivany MR et al.

Cancer Cell International, 2026

Emerging role of DNA polymerase epsilon non-exonuclease domain mutations in colorectal cancer: From sequence variants to clinical implications.

Xu JJ et al.

World Journal of Gastroenterology, 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_10

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

Molecular Classification of Endometrial Carcinomas: Review and Recent Updates.

Kumari A et al.

Cancers, 2025

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

Harrison TA et al.

Bmc Cancer, 2025

Pathogenic POLE-Mutated Endometrial Carcinomas With a Nonultramutated Genome.

Srikumar S et al.

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

DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.

Taskiran I et al.

World Journal of Gastroenterology, 2025

Universal Screening for Lynch Syndrome and molecular classification of patients with endometrial cancer.

Yan G et al.

International Journal of Surgery (london, England), 2025

Prevalence of Atypical and Subclonal p53 Immunohistochemistry Expression in Mismatch Repair Deficient and/or POLE-Mutant Endometrial Carcinomas with TP53 Mutation.

Wang J et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2025

Analysis of IDH1 and IDH2 mutations as causes of the hypermethylator phenotype in colorectal cancer.

Ward JC et al.

The Journal of Pathology, 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

Next-generation sequencing in the molecular classification of endometrial carcinomas: Experience with 270 cases suggesting a potentially more aggressive clinical behavior of multiple classifier endometrial carcinomas.

Michalova K et al.

Virchows Archiv : an International Journal of Pathology, 2025

Geographic and age variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Nature, 2025

40267983 (PubMed )
Supplement: 41586_2025_9025_MOESM3_ESM.xlsx › Supplementary_Table_3

Next-generation sequencing outperforms Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE) in endometrial cancer molecular classification.

Yoshimura T et al.

Bjc Reports, 2025

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

Carvajal-Veloza J et al.

Journal of Gynecologic Oncology, 2025

Clinicopathologic Analysis of Five Patients with POLE-Mutated Colorectal Cancer in a Single Korean Institute.

Oh H et al.

Diagnostics (basel, Switzerland), 2025

POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases.

Hammer PM et al.

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

Geographic and age-related variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40034755 (PubMed )
Supplement: media-4.xlsx › Supplementary_Table_3

POLE mutations in endometrial carcinoma: Clinical and genomic landscape from a large prospective single-center cohort.

Nero C et al.

Cancer, 2025

POLE-mutated endometrial cancer: new perspectives on the horizon?

Fanale D et al.

Frontiers in Oncology, 2025

A novel missense mutation c.1381T>C: p.(S461P) in POLE causes multiple molecular features of endometrial carcinoma in China: a case report.

Li Y et al.

Frontiers in Oncology, 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

New clinicopathological concept of endometrial carcinoma with integration of histological features and molecular profiles.

Yasuda M

Pathology International, 2024

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

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1

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

Gustav M et al.

Npj Precision Oncology, 2024

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

Keyhanian K et al.

The American Journal of Surgical Pathology, 2024

Predictive and prognostic biomarkers in female genital tract tumours: an update highlighting their clinical relevance and practical issues.

Wong RW et al.

Pathology, 2024

Impact of molecular profile on prognosis and relapse pattern in low and intermediate risk endometrial cancer.

Lindemann K et al.

European Journal of Cancer (oxford, England : 1990), 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

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