Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.V411L
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POLE

NM_006231.4:p.V411L

Associated Papers

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

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

Keivany MR et al.

Cancer Cell International, 2026

Clinicopathologic and Molecular Features of Tubo-Ovarian Carcinosarcomas with an Emphasis on p53 Wild-Type, KRAS-Mutated Tumors.

Hammer PM et al.

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

Aggressive Right-Sided Colon Cancer in a Young Adult: Triple-Whammy Mutations (POLE, KRAS, BRCA1/2) Highlight Emerging Genetic Associations.

Patel R et al.

Acg Case Reports Journal, 2026

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

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

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

A rare large cell variant of small-cell carcinoma of the ovary, hypercalcemic type in a postmenopausal woman: Case report.

Liu S et al.

Medicine, 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

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

Evolution and Co-occurrence of PI3K Pathway Gene Mutations in Endometrial Carcinoma Molecular Subtypes at the Single-Cell Level.

Da Cruz Paula A et al.

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

Efficacy of immunotherapy in gastrointestinal (GI) tumors with mismatch repair deficient (MMRd) unusual phenotype: an AGEO real-world study.

Alouani E et al.

Journal for Immunotherapy of Cancer, 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

The colorectal liver metastasis growth pattern phenotype is not dependent on genotype.

Höppener DJ et al.

British Journal of 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

Complete response of somatic POLE-ultramutated recurrent undifferentiated uterine sarcoma to pembrolizumab and concurrent radiotherapy.

Charewycz NE et al.

Gynecologic Oncology Reports, 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

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

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

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

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

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

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

Enhancing the detection of clinically relevant biomarkers in advanced uterine and tubo-ovarian carcinomas through genome-wide analysis.

Al Assaad M et al.

Pathology, Research and Practice, 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

Molecular subtype of ovarian clear cell carcinoma: an analysis of 80 Chinese patients using the TCGA molecular classification of endometrial cancer.

Chen W et al.

Bmc 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

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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."