Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 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
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.
Roy S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
A redefined InDel taxonomy provides insights into mutational signatures.
Koh GCC et al.
Nature Genetics, 2025
Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers.
Försti A et al.
International Journal of Cancer, 2025
Defective DNA repair: a putative nexus linking immunological diseases, neurodegenerative disorders, and cancer.
Andarawi S et al.
Mutagenesis, 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
Lynch Syndrome-associated Genomic Variants.
Botea R et al.
Journal of Gastrointestinal and Liver Diseases : Jgld, 2024
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells.
Andrianova MA et al.
European Journal of Human Genetics : Ejhg, 2024
Multiple duodenal epithelial tumors in a patient with polymerase proofreading-associated polyposis in POLE variant.
Miyazaki H et al.
Clinical Journal of Gastroenterology, 2024
DNA polymerase ε and δ variants drive mutagenesis in polypurine tracts in human tumors.
Ostroverkhova D et al.
Cell Reports, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
POLD1 DEDD Motif Mutation Confers Hypermutation in Endometrial Cancer and Durable Response to Pembrolizumab.
Wei CH et al.
Cancers, 2023
Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.
Weber CAM et al.
Acta Neuropathologica Communications, 2023
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Mur P et al.
Genome Medicine, 2023
Replication DNA polymerases, genome instability and cancer therapies.
Strauss JD et al.
Nar Cancer, 2023
Commonalities and differences in the mutational signature and somatic driver mutation landscape across solid and hollow viscus organs.
Ng AS et al.
Oncogene, 2023
Genotype-Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis.
Zhu LH et al.
Digestive Diseases and Sciences, 2023
Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair.
Sherwood K et al.
Nature Communications, 2023
Effect on Germline Mutation Rate in a High-Risk Chinese Breast Cancer Cohort after Compliance with The National Comprehensive Cancer Network (NCCN) 2023 v.1 Testing Criteria.
Kwong A et al.
Cancers, 2023
ProTarget: a Danish Nationwide Clinical Trial on Targeted Cancer Treatment based on genomic profiling - a national, phase 2, prospective, multi-drug, non-randomized, open-label basket trial.
Kringelbach T et al.
Bmc Cancer, 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
Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.
Robinson PS et al.
Nature Communications, 2022
POLE/POLD1 mutation and tumor immunotherapy.
Ma X et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2022
Germline mutations in Chinese ovarian cancer with or without breast cancer.
Kwong A et al.
Molecular Genetics & Genomic Medicine, 2022
Germline variant testing in serrated polyposis syndrome.
Murphy A et al.
Journal of Gastroenterology and Hepatology, 2022
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
Palles C et al.
Familial Cancer, 2022
Evaluation of Classic, Attenuated, and Oligopolyposis of the Colon.
Long JM et al.
Gastrointestinal Endoscopy Clinics of North America, 2022
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
APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients.
Takao M et al.
International Journal of Clinical Oncology, 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