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
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
PolED: a manually curated database of functional studies of POLE and POLD1 variants reported in humans.
Tsarin L et al.
Database : the Journal of Biological Databases and Curation, 2025
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
Human DNA polymerase ε is a source of C>T mutations at CpG dinucleotides.
Tomkova M et al.
Nature Genetics, 2024
Exploring the basis of heterogeneity of cancer aggressiveness among the mutated POLE variants.
Selves J et al.
Life Science Alliance, 2024
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Mur P et al.
Genome Medicine, 2023
The hereditary N363K POLE exonuclease mutant extends PPAP tumor spectrum to glioblastomas by causing DNA damage and aneuploidy in addition to increased mismatch mutagenicity.
Labrousse G et al.
Nar Cancer, 2023
EANO guideline on rational molecular testing of gliomas, glioneuronal, and neuronal tumors in adults for targeted therapy selection.
Capper D et al.
Neuro-oncology, 2023
Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.
Rocque MJ et al.
Molecular Genetics and Genomics : Mgg, 2023
Genetic predisposition and evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors.
Stoltze UK et al.
Neuro-oncology, 2023
Phenotypic continuum between POLE-related recessive disorders: A case report and literature review.
Roberts ME et al.
American Journal of Medical Genetics. Part A, 2022
POLE/POLD1 mutation and tumor immunotherapy.
Ma X et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2022
PD-1 Blockade in Solid Tumors with Defects in Polymerase Epsilon.
Rousseau B et al.
Cancer Discovery, 2022
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
Palles C et al.
Familial Cancer, 2022
Probing the mechanisms of two exonuclease domain mutators of DNA polymerase ϵ.
Dahl JM et al.
Nucleic Acids Research, 2022
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Sehested A et al.
Human Mutation, 2022
Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.
Jiang M et al.
Frontiers in Genetics, 2022
Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.
Billaud A et al.
Genome Medicine, 2021
POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.
Magrin L et al.
Oncogene, 2021
Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.
Robinson PS et al.
Nature Genetics, 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
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
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.
Djursby M et al.
Frontiers in Genetics, 2020
Update on genetic predisposition to colorectal cancer and polyposis.
Valle L et al.
Molecular Aspects of Medicine, 2019
Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma.
Vande Perre P et al.
Familial Cancer, 2019
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Logan CV et al.
American Journal of Human Genetics, 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
Replicative DNA polymerase defects in human cancers: Consequences, mechanisms, and implications for therapy.
Barbari SR et al.
Dna Repair, 2017
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
A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.
Hansen MF et al.
Familial Cancer, 2015
International society for gastrointestinal hereditary tumours-InSiGHT.
Unknown Author
Familial Cancer, 2015
A mutation in POLE predisposing to a multi-tumour phenotype.
Rohlin A et al.
International Journal of Oncology, 2014
Hereditary intestinal polyposis syndromes.
Dean PA
Revista De Gastroenterologia De Mexico, 0