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
Genomic characterization of colorectal tumors: insights into significantly mutated genes, pathways, and survival outcomes.
Harrison TA et al.
Bmc Cancer, 2025
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
Clinical Utility of Whole-Genome Sequencing to Aid Histologic Diagnosis and to Direct Personalized Medicine in Salivary Gland Cancer.
Church M et al.
Jco Precision Oncology, 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
DNA polymerase ε and δ variants drive mutagenesis in polypurine tracts in human tumors.
Ostroverkhova D et al.
Cell Reports, 2024
POLD1 DEDD Motif Mutation Confers Hypermutation in Endometrial Cancer and Durable Response to Pembrolizumab.
Wei CH et al.
Cancers, 2023
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Mur P et al.
Genome Medicine, 2023
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
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
The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals.
Carrato C et al.
International Journal of Molecular Sciences, 2021
Characterization of Clonal Evolution in Microsatellite Unstable Metastatic Cancers through Multiregional Tumor Sequencing.
Bonneville R et al.
Molecular Cancer Research : Mcr, 2021
Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.
Zaidi SH et al.
Nature Communications, 2020
Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer.
Singh AK et al.
Plos One, 2020
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
Pritzlaff M et al.
Breast Cancer Research and Treatment, 2017