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
Emerging role of DNA polymerase epsilon non-exonuclease domain mutations in colorectal cancer: From sequence variants to clinical implications.
Xu JJ et al.
World Journal of Gastroenterology, 2026
Hereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.
Kluk A et al.
International Journal of Molecular Sciences, 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
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
Human DNA polymerase ε is a source of C>T mutations at CpG dinucleotides.
Tomkova M et al.
Nature Genetics, 2024
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Mur P et al.
Genome Medicine, 2023
Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.
Rocque MJ et al.
Molecular Genetics and Genomics : Mgg, 2023
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
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
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
Update on genetic predisposition to colorectal cancer and polyposis.
Valle L et al.
Molecular Aspects of Medicine, 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
Hereditary intestinal polyposis syndromes.
Dean PA
Revista De Gastroenterologia De Mexico, 0