Associated Papers
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
39390083 (PubMed )
Supplement: 41588_2024_1945_MOESM4_ESM.xlsx › Table6
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_MOESM3_ESM.xlsx › Table_S3
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
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
29120461 (PubMed )
Supplement: NIHMS909759-supplement-Supplementary___Appendix__online_only_material__etc__.docx
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
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
Chubb D et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
Select a paper to view details