Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.P286R
Back to variants list

POLE

NM_006231.4:p.P286R

Associated Papers

Molecular Subtype and Mutational Profile of Endometrial Atypical Hyperplasia/Endometrioid Intraepithelial Neoplasia.

Leino A et al.

International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2026

A Deeper Dive into POLE -Mutated Endometrial Carcinomas : The Contributions and Consequences of Tumor Mutational Burden.

Vemuri A et al.

The American Journal of Surgical Pathology, 2026

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

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

Whole genome sequencing approach to assess homologous recombination deficiency in a pan-cancer cohort.

Al Assaad M et al.

Communications Medicine, 2026

The relationship between histopathological data and molecular alterations with oncological outcomes in endometrioid-type endometrial cancers and a novel POLE mutation.

Aksahin E et al.

Journal of Gynecologic Oncology, 2026

Preanalytical Histology Review Improves POLE Mutation Detection in Endometrial Carcinomas.

Huang H et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Characterization of Korean Colorectal Cancer Reveals Novel Driver Gene and Clinically Relevant Mutations.

Kang J et al.

Medcomm, 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

Leveraging oncology clinical case report data through the Cancer Knowledgebase (CKB).

Gokhale RH et al.

Personalized Medicine, 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

Investigating somatic variants and pathways in mismatch repair-deficient (dMMR) colorectal carcinoma in South Africa.

Aldera AP et al.

Journal of Clinical Pathology, 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

miRNA Signatures in Endometrial Cancer: Implications for Oncogenesis and Polymerase Epsilon (POLE) Mutation Status.

Lazaridis A et al.

International Journal of Molecular Sciences, 2025

PPP2R1A mutation status as a predictive and prognostic factor in molecularly characterized endometrial carcinoma: a cohort study.

Khatun M et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2025

Somatic whole exome sequencing of colorectal carcinoma in young patients from sub-Saharan Africa reveals novel insights.

Aldera AP et al.

The Journal of Pathology. Clinical Research, 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

An exploratory analysis of driver gene alterations and their potential prognostic relevance in endometrial cancer with POLE exonuclease domain mutations.

Wei TY et al.

Gynecologic Oncology, 2025

Intrapatient genomic divergence across multiple primary tumors in young Korean patients.

Choi YY

Korean Journal of Clinical Oncology, 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

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Real-World Evaluation of Microsatellite Instability Detection via Targeted NGS Panels in Routine Molecular Diagnostics.

Škerl P et al.

International Journal of Molecular Sciences, 2025

40806271 (PubMed )
Supplement: ijms-26-07138-s001.zip › Table_S2-MMR_genes_alterations.xlsx › MSI-S_with_MMR_alterations

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

Molecular diversity in uterine carcinosarcoma: Beyond TP53.

Pham ENB et al.

Gynecologic Oncology, 2025

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

Yoshimura T et al.

Bjc Reports, 2025

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

POLE Mutation Associated With Microsatellite Instability and High Tumor Mutational Burden Confers Exquisite Sensitivity to Immune Checkpoint Inhibitor Therapy in Non-Small Cell Lung Cancer: A Case Report and Genomic Database Analysis.

Lara MS et al.

Clinical Lung Cancer, 2025

A redefined InDel taxonomy provides insights into mutational signatures.

Koh GCC et al.

Nature Genetics, 2025

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

Oh H et al.

Diagnostics (basel, Switzerland), 2025

[First results of comprehensive genomic studies on solid tumours in National Institute of Oncology].

Tóth E et al.

Magyar Onkologia, 2025

Defective DNA repair: a putative nexus linking immunological diseases, neurodegenerative disorders, and cancer.

Andarawi S et al.

Mutagenesis, 2025

Immune Checkpoint Blockade Delays Cancer Development and Extends Survival in DNA Polymerase Mutator Syndromes.

Sawant A et al.

Cancer Research, 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

1–50 of 450 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."