Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.P441L
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POLE

NM_006231.4:p.P441L

Associated Papers

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

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

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

Characterization of hotspot exonuclease domain mutations in the DNA polymerase ϵ gene in endometrial cancer.

Tian W et al.

Frontiers in 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

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

32792570 (PubMed )
Supplement: 41436_2020_922_MOESM5_ESM.xlsx › Suppl._Table_8

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

Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes.

Xu Y et al.

Frontiers in Genetics, 2020

International society for gastrointestinal hereditary tumours-InSiGHT.

Unknown Author

Familial Cancer, 2019

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s8.xls › Somatic_true_positive

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

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

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

Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment.

Stenzinger A et al.

Cancer Medicine, 2014

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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."