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
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 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
Human DNA polymerase ε is a source of C>T mutations at CpG dinucleotides.
Tomkova M et al.
Nature Genetics, 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
Puzzling phenomenon: adult-onset cancer predisposition and pediatric cancer.
Kuhlen M et al.
Trends in Cancer, 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
Commonalities and differences in the mutational signature and somatic driver mutation landscape across solid and hollow viscus organs.
Ng AS et al.
Oncogene, 2023
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
Schamschula E et al.
Biomolecules, 2022
Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.
Robinson PS et al.
Nature Communications, 2022
Germline variant testing in serrated polyposis syndrome.
Murphy A et al.
Journal of Gastroenterology and Hepatology, 2022
Substitution mutational signatures in whole-genome-sequenced cancers in the UK population.
Degasperi A et al.
Science (new York, N.y.), 2022
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
Palles C et al.
Familial Cancer, 2022
Mismatch repair and clinical response to immune checkpoint inhibitors in endometrial cancer.
Antill Y et al.
Cancer, 2022
A phase 2 evaluation of pembrolizumab for recurrent Lynch-like versus sporadic endometrial cancers with microsatellite instability.
Bellone S et al.
Cancer, 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
Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.
Miller EM et al.
Bmc Medical Genomics, 2020
Replicative DNA polymerase defects in human cancers: Consequences, mechanisms, and implications for therapy.
Barbari SR et al.
Dna Repair, 2017
Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication.
Shinbrot E et al.
Genome Research, 2014