Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.R494W
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POLE

NM_006231.4:p.R494W

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_S1.xlsx › S1A_COSMIC_mutation

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s01.docx

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants

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_2

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

Interpretation of somatic POLE mutations in endometrial carcinoma.

León-Castillo A et al.

The Journal of Pathology, 2020

31829442 (PubMed )
Supplement: PATH-250-323-s002.xlsx › Supplementary_Table_S1

Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis.

Petljak M et al.

Cell, 2019

30849372 (PubMed )
Supplement: mmc4.xlsx › Coding_mutations

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Wang Y et al.

Frontiers in Oncology, 2019

30886832 (PubMed )
Supplement: Table_2.xls › Table_2

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s020.xlsx › Figure.2.Drivers.Edited

Polymerase epsilon mutations and concomitant β2-microglobulin mutations in cancer.

Voutsadakis IA

Gene, 2018

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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."