Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.P286H
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POLE

NM_006231.4:p.P286H

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

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

Analysis of IDH1 and IDH2 mutations as causes of the hypermethylator phenotype in colorectal cancer.

Ward JC et al.

The Journal of Pathology, 2025

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

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

Molecular classification of metastatic and recurrent endometrial endometrioid carcinoma: prognostic relevance among low- and high-stage tumours.

McHenry A et al.

Histopathology, 2024

Exploring the basis of heterogeneity of cancer aggressiveness among the mutated POLE variants.

Selves J et al.

Life Science Alliance, 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

ProTarget: a Danish Nationwide Clinical Trial on Targeted Cancer Treatment based on genomic profiling - a national, phase 2, prospective, multi-drug, non-randomized, open-label basket trial.

Kringelbach T et al.

Bmc Cancer, 2023

Polymerase Epsilon-Associated Ultramutagenesis in Cancer.

Xing X et al.

Cancers, 2022

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

Hu H et al.

Cancer Medicine, 2021

Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.

Galati MA et al.

Cancer Research, 2020

DNA Polymerases at the Eukaryotic Replication Fork Thirty Years after: Connection to Cancer.

Pavlov YI et al.

Cancers, 2020

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

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

Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient.

Yamaguchi K et al.

Journal of Human Genetics, 2019

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-s003.pdf

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

Voutsadakis IA

Gene, 2018

Functional Analysis of Cancer-Associated DNA Polymerase ε Variants in Saccharomyces cerevisiae.

Barbari SR et al.

G3 (bethesda, Md.), 2018

Polymerase proofreading domain mutations: New opportunities for immunotherapy in hypermutated colorectal cancer beyond MMR deficiency.

Bourdais R et al.

Critical Reviews in Oncology/hematology, 2017

Next-Generation Sequencing.

Le Gallo M et al.

Advances in Experimental Medicine and Biology, 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

Concomitant loss of SMARCA2 and SMARCA4 expression in small cell carcinoma of the ovary, hypercalcemic type.

Jelinic P et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2016

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

Shinbrot E et al.

Genome Research, 2014

A common cancer-associated DNA polymerase ε mutation causes an exceptionally strong mutator phenotype, indicating fidelity defects distinct from loss of proofreading.

Kane DP et al.

Cancer Research, 2014

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

Church DN et al.

Human Molecular Genetics, 2013

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

Palles C et al.

Nature Genetics, 2013

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