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
Genetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study.
Tóth T et al.
World Journal of Gastroenterology, 2026
Preanalytical Histology Review Improves POLE Mutation Detection in Endometrial Carcinomas.
Huang H et al.
The Journal of Molecular Diagnostics : Jmd, 2026
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
Analysis of IDH1 and IDH2 mutations as causes of the hypermethylator phenotype in colorectal cancer.
Ward JC et al.
The Journal of Pathology, 2025
Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.
Gibson LM et al.
International Journal of Molecular Sciences, 2025
POLE mutations in endometrial carcinoma: Clinical and genomic landscape from a large prospective single-center cohort.
Nero C et al.
Cancer, 2025
Human DNA polymerase ε is a source of C>T mutations at CpG dinucleotides.
Tomkova M et al.
Nature Genetics, 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
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Mur P et al.
Genome Medicine, 2023
Prospective molecular classification of endometrial carcinomas: institutional implementation, practice, and clinical experience.
Devereaux KA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
Palles C et al.
Familial Cancer, 2022
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Sehested A et al.
Human Mutation, 2022
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Barresi V et al.
Acta Neuropathologica Communications, 2021
Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.
Billaud A et al.
Genome Medicine, 2021
Additive effects of variants of unknown significance in replication repair-associated DNA polymerase genes on mutational burden and prognosis across diverse cancers.
Ying J et al.
Journal for Immunotherapy of Cancer, 2021
Somatic Tumor Profile Analysis in a Patient with Germline PMS2 Mutation and Synchronous Ovarian and Uterine Carcinomas.
Huelsman KM et al.
Journal of Personalized Medicine, 2021
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.
Galati MA et al.
Cancer Research, 2020
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
Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.
Hamzaoui N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Interpretation of somatic POLE mutations in endometrial carcinoma.
León-Castillo A et al.
The Journal of Pathology, 2020
Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient.
Yamaguchi K et al.
Journal of Human Genetics, 2019
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Logan CV et al.
American Journal of Human Genetics, 2018
Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.
Fountzilas E et al.
Oncotarget, 2018
Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.
Buchanan DD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Temko D et al.
The Journal of Pathology, 2018
POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.
Esteban-Jurado C et al.
Oncotarget, 2017
Risks at the DNA Replication Fork: Effects upon Carcinogenesis and Tumor Heterogeneity.
Mertz TM et al.
Genes, 2017
A panoply of errors: polymerase proofreading domain mutations in cancer.
Rayner E et al.
Nature Reviews. Cancer, 2016
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
Spier I et al.
International Journal of Cancer, 2015
International society for gastrointestinal hereditary tumours-InSiGHT.
Unknown Author
Familial Cancer, 2015