ArticleCancer medicine2019
Clinicopathological and mutational analyses of colorectal cancer with mutations in the POLE gene.
Article in Cancer medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Ultra-mutated colorectal cancer patients with POLE driver mutations exhibit distinct clinical patterns.Cancer medicine · 2021Pooled it
- Alpelisib enhances cisplatin mediated cytotoxicity in non-mutated, PIK3CA-dependent high-grade serous ovarian cancer.Journal of ovarian research · 2026Article
- Emerging role of DNA polymerase epsilon non-exonuclease domain mutations in colorectal cancer: From sequence variants to clinical implications.World journal of gastroenterology · 2026Article
- DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.World journal of gastroenterology · 2025Article
- POLE Deficiency Exacerbates Diesel Engine Exhaust-Induced Genomic Instability and Malignant Transformation of Bronchial Epithelial Cells.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.International journal of molecular sciences · 2025Article
- Clinicopathologic Analysis of Five Patients withDiagnostics (Basel, Switzerland) · 2025Article
- Tumor mutational burden predicts neoantigen profiles and immunotherapy response in microsatellite stable tumors across different cancer types.Frontiers in immunology · 2025Article
- Integrated Analysis of Polymerase Family Gene Mutations in Acute Myeloid Leukemia: Clinical Features, Prognosis, and Bioinformatics Insights.Medicina (Kaunas, Lithuania) · 2024Article
- Neoadjuvant immunotherapy for colorectal cancer: Right regimens, right patients, right directions?Frontiers in immunology · 2023Review
- Review
- Stage IV colon cancer patients without DENND2D expression benefit more from neoadjuvant chemotherapy.Cell death & disease · 2022Article
- Review
- Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.Frontiers in genetics · 2022Article
- Molecular and Pathology Features of Colorectal Tumors and Patient Outcomes Are Associated withCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- Review
- Evidence-Based Second-Line Treatment in RAS Wild-Type/Mutated Metastatic Colorectal Cancer in the Precision Medicine Era.International journal of molecular sciences · 2021Review
- Clinical and epigenetic features of colorectal cancer patients with somatic POLE proofreading mutations.Clinical epigenetics · 2021Article
- An Update on the Epidemiology, Molecular Characterization, Diagnosis, and Screening Strategies for Early-Onset Colorectal Cancer.Gastroenterology · 2021Review
- Tumor-Infiltrating Lymphocytes, Tumor Mutational Burden, and Genetic Alterations in Microsatellite Unstable, Microsatellite Stable, or MutantJCO precision oncology · 2021Article
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Here, we investigated the clinicopathological and mutation profiles of colorectal cancer (CRC) with POLE mutations. Whole-exome sequencing was performed in 910 surgically resected primary CRCs. Tumors exceeding 500 counts of nonsynonymous single nucleotide variants (SNVs) were classified as hypermutators, whereas the remaining were classified as nonhypermutators. The hypermutators were subdivided into 2 groups. CRCs harboring more than 20% C-to-A and less than 3% C-to-G transversions were classified as POLE category tumors, whereas the remaining were classified as common-hypermutators. Gene expression profiling (GEP) analysis was performed in 892 (98.0%) tumors. Fifty-seven (6.3%) and 10 (1.1%) tumors were classified common-hypermutators and POLE category tumors, respectively. POLE category tumors harbored a significantly higher SNV count than common-hypermutators, and all POLE category tumors were associated with exonuclease domain mutations, such as P286R, F367C, V411L, and S297Y, in the POLE gene. Patients with POLE category tumors were significantly younger than those with nonhypermutators and common-hypermutators. All POLE mutations in the early-onset (age of onset ≤50 years old) POLE category (7 tumors) were P286R mutations. GEP analysis revealed that PD-L1 and PD-1 gene expression levels were significantly increased in both common-hypermutators and POLE category tumors compared with those in nonhypermutators. CD8A expression was significantly upregulated in POLE category tumors compared with that in nonhypermutators. Thus, we concluded that CRCs with POLE proofreading deficiency had characteristics distinct from those of other CRCs. Analysis of POLE proofreading deficiency may be clinically significant for personalized management of CRCs.
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