Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.S297F
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POLE

NM_006231.4:p.S297F

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

Concordance Analysis of Microsatellite Instability via NGS and Mismatch Repair Deficiency via IHC in Endometrial and Colorectal Cancer.

Nero C et al.

Targeted Oncology, 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

Clonal Progression of a DNA Polymerase Epsilon-Mutant Endometrial Cancer With Immune Evasion Characteristics and Metastasis.

Fan R et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2026

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

Xu T et al.

Bmc Medicine, 2026

Secondary POLE Mutation Drives Metastasis in Hereditary Breast and Ovarian Cancer: Revealing Fallopian Tube Ultramutation.

Jisaka M et al.

Jco Precision Oncology, 2026

Molecular Classification of Endometrial Carcinomas: Review and Recent Updates.

Kumari A et al.

Cancers, 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

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

Yan G et al.

International Journal of Surgery (london, England), 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

Prognostic values of molecular subtypes and SWI/SNF protein expression in de-differentiated/undifferentiated endometrial carcinoma.

Shin CY et al.

Histopathology, 2025

39811899 (PubMed )
Supplement: HIS-86-1053-s001.xlsx › Table_S2

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

Matejcic M et al.

Cancer Research, 2025

Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency.

Weijers DD et al.

Nature Communications, 2025

40368937 (PubMed )
Supplement: 41467_2025_59775_MOESM1_ESM.pdf

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

Carvajal-Veloza J et al.

Journal of Gynecologic Oncology, 2025

Genetics, genomics and clinical features of adenomatous polyposis.

Joo JE et al.

Familial Cancer, 2025

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

Oh H et al.

Diagnostics (basel, Switzerland), 2025

The Histomorphology to Molecular Transition: Exploring the Genomic Landscape of Poorly Differentiated Epithelial Endometrial Cancers.

Molefi T et al.

Cells, 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

[Application of PMS2 and MSH6 double-antibody detection in screening of mismatch repair deficient tumors].

Wang CS et al.

Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 2025

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

Nero C et al.

Cancer, 2025

Establishment of a human ovarian endometrioid carcinoma cell line by constitutive expression of cyclin-dependent kinase 4, cyclin D1 and telomerase reverse transcriptase.

Hoshino H et al.

Human Cell, 2025

PolED: a manually curated database of functional studies of POLE and POLD1 variants reported in humans.

Tsarin L et al.

Database : the Journal of Biological Databases and Curation, 2025

41263451 (PubMed )
Supplement: baaf076_supplemental_files.zip › Supplementary_Table_S3.xlsx › Sheet1

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

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

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

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

Yasuda M

Pathology International, 2024

Clinical characteristics and genomic profiling of outpatients with endometrial cancer at a Chinese tertiary cancer center.

Feng Z et al.

Discover Oncology, 2024

A comprehensive analysis of POLE/POLD1 genomic alterations in colorectal cancer.

Mosalem O et al.

The Oncologist, 2024

A phase II clinical trial of toripalimab in advanced solid tumors with polymerase epsilon/polymerase delta (POLE/POLD1) mutation.

Jin Y et al.

Signal Transduction and Targeted Therapy, 2024

Prognostic genome and transcriptome signatures in colorectal cancers.

Nunes L et al.

Nature, 2024

39112715 (PubMed )
Supplement: 41586_2024_7769_MOESM4_ESM.pdf

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

Comprehensive genomic and transcriptomic characterization of high-grade gastro-entero-pancreatic neoplasms.

Angerilli V et al.

British Journal of Cancer, 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

A Comprehensive Study of Heterogeneous Mismatch Repair Expression in Solid Tumors Reveals Different Immunohistochemical Patterns and Distinct Genetic Mechanisms.

Wang J et al.

The American Journal of Surgical Pathology, 2024

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

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

Assessing the New 2020 ESGO/ESTRO/ESP Endometrial Cancer Risk Molecular Categorization System for Predicting Survival and Recurrence.

Ouh YT et al.

Cancers, 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

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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."