Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.E277G
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POLE

NM_006231.4:p.E277G

Associated Papers

Comparative Analysis of Somatic and Germline Polymerase Proofreading Deficiencies in Cancer: Molecular and Clinical Implications.

Viana-Errasti J et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Genetics, genomics and clinical features of adenomatous polyposis.

Joo JE et al.

Familial Cancer, 2025

Puzzling phenomenon: adult-onset cancer predisposition and pediatric cancer.

Kuhlen M et al.

Trends in Cancer, 2024

DNA mismatch and damage patterns revealed by single-molecule sequencing.

Liu MH et al.

Nature, 2024

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.

Mur P et al.

Genome Medicine, 2023

Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.

Liu MH et al.

Biorxiv : the Preprint Server for Biology, 2023

Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition.

Michaeli O et al.

Clinical Genetics, 2022

Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.

Sehested A et al.

Human Mutation, 2022

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

Tian W et al.

Frontiers in Oncology, 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

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

Galati MA et al.

Cancer Research, 2020

Next generation sequencing to decipher concurrent loss of PMS2 and MSH6 in colorectal cancer.

Moreno E et al.

Diagnostic Pathology, 2020

International society for gastrointestinal hereditary tumours-InSiGHT.

Unknown Author

Familial Cancer, 2015

Hereditary intestinal polyposis syndromes.

Dean PA

Revista De Gastroenterologia De Mexico, 0

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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."