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
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
Clinical characterization and analysis of the POLE gene in three Chinese patients with IMAGEI syndrome.
Mao D et al.
Bmc Pediatrics, 2026
Preanalytical Histology Review Improves POLE Mutation Detection in Endometrial Carcinomas.
Huang H et al.
The Journal of Molecular Diagnostics : Jmd, 2026
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
The germline POLD1 c.1420 C > A (p.Leu474Ile) variant segregates with endometrial cancer, colorectal cancer and colonic polyps demonstrating hypermutation and defective POLD1 mutational signatures.
Buchanan DD et al.
Familial Cancer, 2025
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.
Roy S et al.
The Journal of Molecular Diagnostics : Jmd, 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
High burden of variants of uncertain significance in early-onset colorectal cancer among indigenous African patients: a call for global research equity in cancer genetics.
Yildiz S et al.
Molecular Biology Reports, 2025
Molecular analysis of adolescent and young adult high grade gliomas in the SPECTA-AYA study: Poorly characterised tumours with frequent germline alterations.
Morfouace M et al.
European Journal of Cancer (oxford, England : 1990), 2025
Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency.
Weijers DD et al.
Nature Communications, 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
Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers.
Försti A et al.
International Journal of Cancer, 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
POLE-mutated endometrial cancer: new perspectives on the horizon?
Fanale D et al.
Frontiers in Oncology, 2025
Pathological diagnosis experience and literature review of four cases suspected Lynch-like syndrome.
Cheng B 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
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
On the Boundary of Exploratory Genomics and Translation in Sequential Glioblastoma.
Tompa M et al.
International Journal of Molecular Sciences, 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
Immune Checkpoint Blockade Delays Cancer and Extends Survival in Murine DNA Polymerase Mutator Syndromes.
Sawant A et al.
Biorxiv : the Preprint Server for Biology, 2024
Multiple duodenal epithelial tumors in a patient with polymerase proofreading-associated polyposis in POLE variant.
Miyazaki H et al.
Clinical Journal of Gastroenterology, 2024
DNA polymerase ε and δ variants drive mutagenesis in polypurine tracts in human tumors.
Ostroverkhova D et al.
Cell Reports, 2024
Exploring the basis of heterogeneity of cancer aggressiveness among the mutated POLE variants.
Selves J et al.
Life Science Alliance, 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
Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.
Weber CAM et al.
Acta Neuropathologica Communications, 2023
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Mur P et al.
Genome Medicine, 2023
Replication DNA polymerases, genome instability and cancer therapies.
Strauss JD et al.
Nar Cancer, 2023
Commonalities and differences in the mutational signature and somatic driver mutation landscape across solid and hollow viscus organs.
Ng AS et al.
Oncogene, 2023
Genotype-Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis.
Zhu LH et al.
Digestive Diseases and Sciences, 2023
Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair.
Sherwood K et al.
Nature Communications, 2023