Associated Papers
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
The promises and pitfalls of automated variant interpretation: a comprehensive review.
Costa M et al.
Briefings in Bioinformatics, 2025
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Beyond proofreading: POLD1 mutations as dynamic orchestrators of genomic instability and immune evasion in cancer.
Chen H et al.
Frontiers in Immunology, 2025
Case Report: Expansion of the POLD1-related polymerase proofreading-associated polyposis spectrum: first report of duodenal adenocarcinomas and characterization of two likely pathogenic variants.
Folletet A et al.
Frontiers in Oncology, 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
DNA polymerase ε and δ variants drive mutagenesis in polypurine tracts in human tumors.
Ostroverkhova D et al.
Cell Reports, 2024
Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.
Demidova EV et al.
Bmc Genomics, 2023
Case Report: Cancer spectrum and genetic characteristics of a de novo germline POLD1 p.L606M variant-induced polyposis syndrome.
Zhang Y et al.
Frontiers in Oncology, 2023
Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer.
Yildiz S et al.
Frontiers in Oncology, 2023
POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.
Chen YX et al.
Clinical and Translational Medicine, 2021
Morphologic and molecular analysis of early-onset gastric cancer.
Setia N et al.
Cancer, 2021
Germline-driven replication repair-deficient high-grade gliomas exhibit unique hypomethylation patterns.
Dodgshun AJ et al.
Acta Neuropathologica, 2020
Interpretation of somatic POLE mutations in endometrial carcinoma.
León-Castillo A et al.
The Journal of Pathology, 2020
Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair.
Haradhvala NJ et al.
Nature Communications, 2018
Comprehensive Analysis of Hypermutation in Human Cancer.
Campbell BB et al.
Cell, 2017
Nucleotide selectivity defect and mutator phenotype conferred by a colon cancer-associated DNA polymerase δ mutation in human cells.
Mertz TM et al.
Oncogene, 2017
Replicative DNA polymerase defects in human cancers: Consequences, mechanisms, and implications for therapy.
Barbari SR et al.
Dna Repair, 2017
POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies.
Nicolas E et al.
Gene, 2016
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
Lessel D et al.
Human Mutation, 2015