Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.A426V
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POLE

NM_006231.4:p.A426V

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

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Comparison between a Luminex-based multiplex kit with a sequence-specific oligonucleotide probe and next-generation sequencing for the detection of POLE oncogenic mutations in endometrial cancer.

Kato MK et al.

Virchows Archiv : an International Journal of Pathology, 2025

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

Next-generation sequencing in the molecular classification of endometrial carcinomas: Experience with 270 cases suggesting a potentially more aggressive clinical behavior of multiple classifier endometrial carcinomas.

Michalova K et al.

Virchows Archiv : an International Journal of Pathology, 2025

Functions, interactions and prognostic role of POLE: a bioinformatics analysis.

Carvajal-Veloza J et al.

Journal of Gynecologic Oncology, 2025

39575998 (PubMed )
Supplement: jgo-36-e45-s001.xls › jgo-36-e45-s001

Identifying Novel Germline Mutations and Copy Number Variations in Patients With SCLC.

Ul Haq S et al.

Jto Clinical and Research Reports, 2024

39564094 (PubMed )
Supplement: mmc3.xlsx › Sheet1

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

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-s07.xlsx › Supplementary_table_6

DNA polymerase ε and δ variants drive mutagenesis in polypurine tracts in human tumors.

Ostroverkhova D et al.

Cell Reports, 2024

38219146 (PubMed )
Supplement: NIHMS1961519-supplement-11.xlsx › Table_S2

The Clinical and Pathological Characteristics of POLE-Mutated Endometrial Cancer: A Comprehensive Review.

Yao X et al.

Cancer Management and Research, 2024

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

In-silico analysis of TCGA data showing multiple POLE-like favourable subgroups overlapping with TP53 mutated endometrial cancer: Implications for clinical practice in low and middle-income countries.

Das Ghosh D et al.

Gynecologic Oncology Reports, 2023

37293351 (PubMed )
Supplement: mmc2.xlsx › POLE

Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer.

Wallander K et al.

Cancers, 2023

36831507 (PubMed )
Supplement: cancers-15-01160-s001.zip › TableS5.xlsx › Sheet1

Case Report: A rare synchronous multiple gastric carcinoma achieved progression-free disease through NGS-guided serial treatment.

Shao X et al.

Frontiers in Oncology, 2023

37496667 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_9.xlsx › Sheet1

Clinicopathological and molecular characterization of high-grade endometrial carcinoma with POLE mutation: a single center study.

Yu S et al.

Journal of Gynecologic Oncology, 2022

35320887 (PubMed )
Supplement: jgo-33-e38-s001.xls › jgo-33-e38-s001

The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Yang Y et al.

Bmc Cancer, 2022

35180847 (PubMed )
Supplement: 12885_2022_9279_MOESM3_ESM.xlsx › sheet1

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 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

Endometrial cancer with a POLE mutation progresses frequently through the type I pathway despite its high-grade endometrioid morphology: a cohort study at a single institution in Japan.

Monsur M et al.

Medical Molecular Morphology, 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

Interpretation of somatic POLE mutations in endometrial carcinoma.

León-Castillo A et al.

The Journal of Pathology, 2020

Homologous Recombination Repair Truncations Predict Hypermutation in Microsatellite Stable Colorectal and Endometrial Tumors.

Lee M et al.

Clinical and Translational Gastroenterology, 2020

32352724 (PubMed )
Supplement: ct9-11-e00149-s001.pdf

Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer.

Fang H et al.

Plos Genetics, 2020

32012149 (PubMed )
Supplement: pgen.1008572.s010.xlsx › Supplementary_table_1

POLE Mutation Characteristics in a Chinese Cohort with Endometrial Carcinoma.

Li Y et al.

Oncotargets and Therapy, 2020

POLE proofreading defects: Contributions to mutagenesis and cancer.

Park VS et al.

Dna Repair, 2019

Polymerase ɛ (POLE) mutations in endometrial cancer: clinical outcomes and implications for Lynch syndrome testing.

Billingsley CC et al.

Cancer, 2015

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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."