Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.A428T
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POLE

NM_006231.4:p.A428T

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

Prevalence of myeloid gene alterations in paediatric cutaneous and systemic mastocytosis.

Sun X et al.

British Journal of Haematology, 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

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

POLE-mutated endometrial cancer: new perspectives on the horizon?

Fanale D et al.

Frontiers in Oncology, 2025

The game-changing impact of POLE mutations in oncology-a review from a gynecologic oncology perspective.

Kögl J et al.

Frontiers in Oncology, 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

Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.

Lee NY et al.

Cancers, 2022

35954343 (PubMed )
Supplement: cancers-14-03680-s001.zip › NPC_WES_study_Table_S3.xlsx › All

Clinical and Molecular Characterization of POLE Mutations as Predictive Biomarkers of Response to Immune Checkpoint Inhibitors in Advanced Cancers.

Garmezy B et al.

Jco Precision Oncology, 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

Interpretation of somatic POLE mutations in endometrial carcinoma.

León-Castillo A et al.

The Journal of Pathology, 2020

Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.

Hendricks A et al.

Cancers, 2020

32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S5_American_patients_mutations

Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.

Chen Z et al.

Molecular Genetics & Genomic Medicine, 2020

31867841 (PubMed )
Supplement: MGG3-8-e1079-s004.xlsx › Sheet1

POLE Mutation Characteristics in a Chinese Cohort with Endometrial Carcinoma.

Li Y et al.

Oncotargets and Therapy, 2020

Practical guidance for mismatch repair-deficiency testing in endometrial cancer.

Stelloo E et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2017

The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Ahn SM et al.

Oncotarget, 2016

27612425 (PubMed )
Supplement: oncotarget-07-68638-s005.xlsx › Sheet1

Prognostic significance of POLE proofreading mutations in endometrial cancer.

Church DN et al.

Journal of the National Cancer Institute, 2015

Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication.

Shinbrot E et al.

Genome Research, 2014

DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.

Church DN et al.

Human Molecular Genetics, 2013

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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."