Characteristic Genomic and Clinicopathologic Landscape of DNA Polymerase Epsilon Mutant Colorectal Adenocarcinomas – A Retrospective Cohort Study

DNA polymerase epsilon catalytic subunit A (POLE) gene plays a crucial role in DNA repair and chromosomal replication. Mutations in the POLE gene have been linked to cancer, particularly colorectal carcinoma (CRC). However, the genomic landscape and pathological significance of POLE mutant CRC remain underreported. This study aimed to characterize the clinicopathologic features and genomic landscape of CRC harboring POLE mutations and to investigate the implications of co-occurring genetic alterations.

Authors

Publication Details

Journal
Journal of Clinical and Translational Pathology
Published
2025-12-30
DOI
https://doi.org/10.14218/jctp.2025.00035
Primary Topic
Genetic factors in colorectal cancer
Type
article
Field-Weighted Citation Impact
0.00

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article

Characteristic Genomic and Clinicopathologic Landscape of DNA Polymerase Epsilon Mutant Colorectal Adenocarcinomas – A Retrospective Cohort Study

Lawrence J. Jennings, Zachary -St Coty-Fattal, Juehua Gao, Jessica Nguyen et al.
Journal of Clinical and Translational Pathology
Genetic factors in colorectal cancer
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Characteristic Genomic and Clinicopathologic Landscape of DNA Polymerase Epsilon Mutant Colorectal Adenocarcinomas – A Retrospective Cohort Study

Lawrence J. Jennings, Zachary -St Coty-Fattal, Juehua Gao, Jessica Nguyen, Guang-Yu Yang, David Escobar, Jennifer Ju
article en

Abstract

DNA polymerase epsilon catalytic subunit A (POLE) gene plays a crucial role in DNA repair and chromosomal replication. Mutations in the POLE gene have been linked to cancer, particularly colorectal carcinoma (CRC). However, the genomic landscape and pathological significance of POLE mutant CRC remain underreported. This study aimed to characterize the clinicopathologic features and genomic landscape of CRC harboring POLE mutations and to investigate the implications of co-occurring genetic alterations.

Journal of Clinical and Translational PathologyVol. 5(4)
National Institutes of Health
Life in Land
Openalex Percentile: Top 28%
Genetic factors in colorectal cancer
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