Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.P286S
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POLE

NM_006231.4:p.P286S

Associated Papers

Phenotypic POLE Variant Classification Identifies Patients Who May Have Favorable Prognosis and Benefit from Immunotherapy.

Keller-Evans RB et al.

The Journal of Molecular Diagnostics : Jmd, 2026

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

Molecular Classification and Clinical Outcomes in Endometrial Cancer: Real-World Evidence from a Tertiary Care Center.

Salakphet T et al.

Cancers, 2026

41595105 (PubMed )
Supplement: cancers-18-00181-s001.zip › cancers-4058929-supplementary.pdf

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

Exploring the Genetic and Clinical Landscape of Dedifferentiated Endometrioid Carcinoma.

Haraga H et al.

International Journal of Molecular Sciences, 2025

40362376 (PubMed )
Supplement: ijms-26-04137-s001.zip › Supplementary_Table_S1.xlsx › Case3_undifferentiated

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

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-1.pdf

The P286R mutation of DNA polymerase ε activates cancer-cell-intrinsic immunity and suppresses endometrial tumorigenesis via the cGAS-STING pathway.

Tang M et al.

Cell Death & Disease, 2024

38238314 (PubMed )
Supplement: 41419_2023_6418_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_MOESM6_ESM.xlsx › Table_S6

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

Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.

Billaud A et al.

Genome Medicine, 2021

Ultra-mutated colorectal cancer patients with POLE driver mutations exhibit distinct clinical patterns.

Hu H et al.

Cancer Medicine, 2021

Distinctive genomic characteristics in POLE/POLD1-mutant cancers can potentially predict beneficial clinical outcomes in patients who receive immune checkpoint inhibitor.

He J et al.

Annals of Translational Medicine, 2021

Comprehensive analysis of indels in whole-genome microsatellite regions and microsatellite instability across 21 cancer types.

Fujimoto A et al.

Genome Research, 2020

32209592 (PubMed )
Supplement: supp_gr.255026.119_Supplemental_Tables.xlsx › Table_S11

Interpretation of somatic POLE mutations in endometrial carcinoma.

León-Castillo A et al.

The Journal of Pathology, 2020

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.s020.docx

Molecular classification of endometrial carcinoma on diagnostic specimens is highly concordant with final hysterectomy: Earlier prognostic information to guide treatment.

Talhouk A et al.

Gynecologic Oncology, 2016

Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

Jansen AM et al.

European Journal of Human Genetics : Ejhg, 2016

Endometrial Carcinomas with POLE Exonuclease Domain Mutations Have a Favorable Prognosis.

McConechy MK et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

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