Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.R689W
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POLD1

NM_002691.4:p.R689W

Associated Papers

Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.

Gibson LM et al.

International Journal of Molecular Sciences, 2025

40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S2.xlsx › Colorectal_CHASM_p-values

A redefined InDel taxonomy provides insights into mutational signatures.

Koh GCC et al.

Nature Genetics, 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

Signification and Application of Mutator and Antimutator Phenotype-Induced Genetic Variations in Evolutionary Adaptation and Cancer Therapeutics.

Chung WH

Journal of Microbiology (seoul, Korea), 2023

DNA mismatch repair protects the genome from oxygen-induced replicative mutagenesis.

Lózsa R et al.

Nucleic Acids Research, 2023

Replication DNA polymerases, genome instability and cancer therapies.

Strauss JD et al.

Nar Cancer, 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

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

Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene.

Bappy MNI et al.

Genetics Research, 2022

POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.

Magrin L et al.

Oncogene, 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

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

34586735 (PubMed )
Supplement: CTM2-11-e524-s001.xlsx › Supplementary_Table_6

Expression of the cancer-associated DNA polymerase ε P286R in fission yeast leads to translesion synthesis polymerase dependent hypermutation and defective DNA replication.

Soriano I et al.

Plos Genetics, 2021

Genomic Profiling Reveals the Molecular Landscape of Gastrointestinal Tract Cancers in Chinese Patients.

Zhu C et al.

Frontiers in Genetics, 2021

Role of POLE and POLD1 in familial cancer.

Mur P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32792570 (PubMed )
Supplement: 41436_2020_922_MOESM8_ESM.xlsx › Suppl._Table_12

DNA Polymerases at the Eukaryotic Replication Fork Thirty Years after: Connection to Cancer.

Pavlov YI et al.

Cancers, 2020

The POLD1R689W variant increases the sensitivity of colorectal cancer cells to ATR and CHK1 inhibitors.

Job A et al.

Scientific Reports, 2020

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

Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Berg KCG et al.

Molecular Cancer, 2017

POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies.

Nicolas E et al.

Gene, 2016

Deoxyribonucleotide metabolism, mutagenesis and cancer.

Mathews CK

Nature Reviews. Cancer, 2015

Colon cancer-associated mutator DNA polymerase δ variant causes expansion of dNTP pools increasing its own infidelity.

Mertz TM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2015

Structural insights into eukaryotic DNA replication.

Doublié S et al.

Frontiers in Microbiology, 2014

DNA replication fidelity and cancer.

Preston BD et al.

Seminars in Cancer Biology, 2010

A cancer-associated DNA polymerase delta variant modeled in yeast causes a catastrophic increase in genomic instability.

Daee DL et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."