Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.Y458C
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POLE

NM_006231.4:p.Y458C

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

Preanalytical Histology Review Improves POLE Mutation Detection in Endometrial Carcinomas.

Huang H et al.

The Journal of Molecular Diagnostics : Jmd, 2026

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

Lynch Syndrome-associated Genomic Variants.

Botea R et al.

Journal of Gastrointestinal and Liver Diseases : Jgld, 2024

Subclonal p53 immunostaining in the diagnosis of endometrial carcinoma molecular subtype.

Huvila J et al.

Histopathology, 2023

Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.

Rocque MJ et al.

Molecular Genetics and Genomics : Mgg, 2023

Clinicopathological and molecular characterization of high-grade endometrial carcinoma with POLE mutation: a single center study.

Yu S et al.

Journal of Gynecologic Oncology, 2022

35320887 (PubMed )
Supplement: jgo-33-e38-s001.xls › jgo-33-e38-s001

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

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

Hu H et al.

Cancer Medicine, 2021

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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."