Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.M295R
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POLE

NM_006231.4:p.M295R

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

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

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

39575998 (PubMed )
Supplement: jgo-36-e45-s001.xls › jgo-36-e45-s001

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

High prevalence of "non-pathogenic" POLE mutation with poor prognosis in a cohort of endometrial cancer from South India.

Kuriakose S et al.

International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 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

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

Keyhanian K et al.

The American Journal of Surgical Pathology, 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

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

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

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

Clinicopathological and molecular characterization of high-grade endometrial carcinoma with POLE mutation: a single center study.

Yu S et al.

Journal of Gynecologic Oncology, 2022

Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.

Sehested A et al.

Human Mutation, 2022

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

Role of POLE and POLD1 in familial cancer.

Mur P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32792570 (PubMed )
Supplement: 41436_2020_922_MOESM5_ESM.xlsx › Suppl._Table_8

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

Homologous Recombination Repair Truncations Predict Hypermutation in Microsatellite Stable Colorectal and Endometrial Tumors.

Lee M et al.

Clinical and Translational Gastroenterology, 2020

POLE Mutation Characteristics in a Chinese Cohort with Endometrial Carcinoma.

Li Y et al.

Oncotargets and Therapy, 2020

Endometrial Carcinomas with POLE Exonuclease Domain Mutations Have a Favorable Prognosis.

McConechy MK et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

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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."