Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.V474I
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POLE

NM_006231.4:p.V474I

Associated Papers

Analysis of discordance between mismatch repair and microsatellite instability testing in endometrial cancer.

Xi Y et al.

Human Pathology, 2026

Deep learning for dual detection of microsatellite instability and POLE mutations in colorectal cancer histopathology.

Gustav M et al.

Npj Precision Oncology, 2024

38783059 (PubMed )
Supplement: 41698_2024_592_MOESM1_ESM.pdf

The P286R mutation of DNA polymerase ε activates cancer-cell-intrinsic immunity and suppresses endometrial tumorigenesis via the cGAS-STING pathway.

Tang M et al.

Cell Death & Disease, 2024

38238314 (PubMed )
Supplement: 41419_2023_6418_MOESM1_ESM.docx

Solving the enigma of POLD1 p.V295M as a potential cause of increased cancer risk.

Mur P et al.

European Journal of Human Genetics : Ejhg, 2022

Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.

Jiang M et al.

Frontiers in Genetics, 2022

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

Magrin L et al.

Oncogene, 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

Comprehensive analysis of indels in whole-genome microsatellite regions and microsatellite instability across 21 cancer types.

Fujimoto A et al.

Genome Research, 2020

32209592 (PubMed )
Supplement: supp_gr.255026.119_Supplemental_Tables.xlsx › Table_S11

Update on genetic predisposition to colorectal cancer and polyposis.

Valle L et al.

Molecular Aspects of Medicine, 2019

POLE proofreading defects: Contributions to mutagenesis and cancer.

Park VS et al.

Dna Repair, 2019

Replicative DNA polymerase defects in human cancers: Consequences, mechanisms, and implications for therapy.

Barbari SR et al.

Dna Repair, 2017

Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome.

Maletzki C et al.

Molecular Carcinogenesis, 2017

POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.

Esteban-Jurado C et al.

Oncotarget, 2017

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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."