Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.K425R
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POLE

NM_006231.4:p.K425R

Associated Papers

DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.

Taskiran I et al.

World Journal of Gastroenterology, 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

Prevalence of germline variants in Brazilian pancreatic carcinoma patients.

Rodrigues LM et al.

Scientific Reports, 2024

39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.docx

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.

Mur P et al.

Genome Medicine, 2023

37848928 (PubMed )
Supplement: 13073_2023_1234_MOESM3_ESM.xlsx › Table_S3

Comprehensive Approach to Genomic and Immune Profiling: Insights of a Real-World Experience in Gynecological Tumors.

Prieto-Potin I et al.

Diagnostics (basel, Switzerland), 2022

36010253 (PubMed )
Supplement: diagnostics-12-01903-s001.zip › Table_S3._OCA_v3_RAW_DATA.xlsx › GENERAL

PD-1 Blockade in Solid Tumors with Defects in Polymerase Epsilon.

Rousseau B et al.

Cancer Discovery, 2022

The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.

Palles C et al.

Familial Cancer, 2022

33948826 (PubMed )
Supplement: 10689_2021_256_MOESM1_ESM.docx

Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.

Galati MA et al.

Cancer Research, 2020

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

Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.

Hamzaoui N et al.

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

A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.

Velázquez C et al.

Journal of Translational Medicine, 2020

32522261 (PubMed )
Supplement: 12967_2020_2391_MOESM1_ESM.xlsx › Sup1

Update on genetic predisposition to colorectal cancer and polyposis.

Valle L et al.

Molecular Aspects of Medicine, 2019

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.

Buchanan DD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29120461 (PubMed )
Supplement: NIHMS909759-supplement-Supplementary___Appendix__online_only_material__etc__.docx

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

Esteban-Jurado C et al.

Oncotarget, 2017

GREM1 and POLE variants in hereditary colorectal cancer syndromes.

Rohlin A et al.

Genes, Chromosomes & Cancer, 2016

POLE mutations in families predisposed to cutaneous melanoma.

Aoude LG et al.

Familial Cancer, 2015

International society for gastrointestinal hereditary tumours-InSiGHT.

Unknown Author

Familial Cancer, 2015

Hereditary intestinal polyposis syndromes.

Dean PA

Revista De Gastroenterologia De Mexico, 0

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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."