Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.T278M
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POLE

NM_006231.4:p.T278M

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

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

Carvajal-Veloza J et al.

Journal of Gynecologic Oncology, 2025

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

Fanale D et al.

Frontiers in Oncology, 2025

Germline mutations of homologous recombination genes and clinical outcomes in pancreatic cancer: a multicenter study in Taiwan.

Cheng SM et al.

Journal of Biomedical Science, 2024

38350919 (PubMed )
Supplement: 12929_2024_1008_MOESM1_ESM.zip › 12929_2024_1008_MOESM1_ESM › Additional_file_1_Table_S2.xlsx › Table_S2

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

Ostroverkhova D et al.

Cell Reports, 2024

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

Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Miyashita M et al.

Breast Cancer Research : Bcr, 2023

37231433 (PubMed )
Supplement: 13058_2023_1627_MOESM4_ESM.xlsx › HR_HER2-__mutations_

A novel somatic mutation in POLE exonuclease domain associated with ultra-mutational signature and MMR deficiency in endometrial cancer: a case report.

Cui J et al.

Diagnostic Pathology, 2023

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

Mismatch repair status influences response to fertility-sparing treatment of endometrial cancer.

Chung YS et al.

American Journal of Obstetrics and Gynecology, 2021

Interpretation of somatic POLE mutations in endometrial carcinoma.

León-Castillo A et al.

The Journal of Pathology, 2020

POLE Mutation Characteristics in a Chinese Cohort with Endometrial Carcinoma.

Li Y et al.

Oncotargets and Therapy, 2020

Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome.

Georgeson P et al.

Molecular Genetics & Genomic Medicine, 2019

Targeted Molecular and Immunohistochemical Analyses of Endometrial Clear Cell Carcinoma Show that POLE Mutations and DNA Mismatch Repair Protein Deficiencies Are Uncommon.

Baniak N et al.

The American Journal of Surgical Pathology, 2019

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.

Johansson P et al.

Oncotarget, 2016

26683228 (PubMed )
Supplement: oncotarget-07-4624-s002.xlsx › Sheet1

Clinicopathological analysis of endometrial carcinomas harboring somatic POLE exonuclease domain mutations.

Hussein YR et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2015

POLE exonuclease domain mutation predicts long progression-free survival in grade 3 endometrioid carcinoma of the endometrium.

Meng B et al.

Gynecologic Oncology, 2014

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