Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.D275V
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POLE

NM_006231.4:p.D275V

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

Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.

Gibson LM et al.

International Journal of Molecular Sciences, 2025

40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S1.xlsx › S1A_COSMIC_mutation

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

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

High prevalence of "non-pathogenic" POLE mutation with poor prognosis in a cohort of endometrial cancer from South India.

Kuriakose S et al.

International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 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

Replication DNA polymerases, genome instability and cancer therapies.

Strauss JD et al.

Nar Cancer, 2023

Enhanced polymerase activity permits efficient synthesis by cancer-associated DNA polymerase ϵ variants at low dNTP levels.

Barbari SR et al.

Nucleic Acids Research, 2022

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

Sehested A et al.

Human Mutation, 2022

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

Interpretation of somatic POLE mutations in endometrial carcinoma.

León-Castillo A et al.

The Journal of Pathology, 2020

Update on genetic predisposition to colorectal cancer and polyposis.

Valle L et al.

Molecular Aspects of Medicine, 2019

POLE proofreading defects: Contributions to mutagenesis and cancer.

Park VS et al.

Dna Repair, 2019

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

Barbari SR et al.

G3 (bethesda, Md.), 2018

Family A and B DNA Polymerases in Cancer: Opportunities for Therapeutic Interventions.

Shanbhag V et al.

Biology, 2018

Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.

Hansen MF et al.

Clinical Genetics, 2017

International society for gastrointestinal hereditary tumours-InSiGHT.

Unknown Author

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

DNA polymerase ε and its roles in genome stability.

Henninger EE et al.

Iubmb Life, 2014

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

Church DN et al.

Human Molecular Genetics, 2013

Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers.

Briggs S et al.

The Journal of Pathology, 2013

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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."