Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.T457M
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POLE

NM_006231.4:p.T457M

Associated Papers

Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.

Boujemaa M et al.

Journal of Translational Medicine, 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

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

Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations.

Weijers DD et al.

International Journal of Cancer, 2024

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s07.xlsx › Supplementary_table_6

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

Circulating tumour mutation detection in triple-negative breast cancer as an adjunct to tissue response assessment.

Zaikova E et al.

Npj Breast Cancer, 2024

38182588 (PubMed )
Supplement: 41523_2023_607_MOESM1_ESM.pdf

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.

Weber CAM et al.

Acta Neuropathologica Communications, 2023

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

MULTIPLE NEUROENDOCRINE NEOPLASIA IN A PATIENT WITH TYPE I NEUROFIBROMATOSIS (NF1): REPORT OF A NEW MUTATION (NF1, EXONS 2-30 DELETION) AND LITERATURE REVIEW.

Kanno DT et al.

Arquivos Brasileiros De Cirurgia Digestiva : Abcd = Brazilian Archives of Digestive Surgery, 2023

Potential genetic biomarker of Saudi Arabian patients with colorectal cancer.

Younis NS et al.

European Review for Medical and Pharmacological Sciences, 2022

Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.

Jiang M et al.

Frontiers in Genetics, 2022

POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.

Magrin L et al.

Oncogene, 2021

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

POLE and POLD1 pathogenic variants in the proofreading domain in papillary thyroid cancer.

Siraj AK et al.

Endocrine Connections, 2020

POLE and POLD1 germline exonuclease domain pathogenic variants, a rare event in colorectal cancer from the Middle East.

Siraj AK et al.

Molecular Genetics & Genomic Medicine, 2020

Interpretation of somatic POLE mutations in endometrial carcinoma.

León-Castillo A et al.

The Journal of Pathology, 2020

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM3_ESM.xlsx › Sheet1

Differences in the molecular profile of endometrial cancers from British White and British South Asian women.

Polymeros K et al.

Plos One, 2020

32520976 (PubMed )
Supplement: pone.0233900.s001.xlsx › Mapped_mutations

POLE Mutation Characteristics in a Chinese Cohort with Endometrial Carcinoma.

Li Y et al.

Oncotargets and Therapy, 2020

Phenotype of POLE-mutated endometrial cancer.

Imboden S et al.

Plos One, 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-s021.xlsx › EC.Drivers.Edited

A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.

Hansen MF et al.

Familial Cancer, 2015

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."