ArticleCancer medicine2017
POLE somatic mutations in advanced colorectal cancer.
Article in Cancer medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 47 citations in OpenAlex.
- Review
- Characterization of Korean Colorectal Cancer Reveals Novel Driver Gene and Clinically Relevant Mutations.MedComm · 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
- Genomic Landscapes of Endometrioid and Mucinous Ovarian Cancers and Morphologically Similar Tumor Types.Cancer research communications · 2025Article
- Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.International journal of molecular sciences · 2025Article
- Unveiling immunogenic characteristics and neoantigens in endometrial cancer with POLE hotspot mutations for improved immunotherapy.Frontiers in immunology · 2025Article
- Predictors of response to immunotherapy in colorectal cancer.The oncologist · 2024Review
- Histomorphological and molecular genetic characterization of different intratumoral regions and matched metastatic lymph nodes of colorectal cancer with heterogenous mismatch repair protein expression.Journal of cancer research and clinical oncology · 2023Article
- The architecture of clonal expansions in morphologically normal tissue from cancerous and non-cancerous prostates.Molecular cancer · 2022Article
- Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.Biomedical journal · 2022Observational
- Assessment ofTranslational cancer research · 2022Article
- Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.Frontiers in genetics · 2022Article
- Clinical and epigenetic features of colorectal cancer patients with somatic POLE proofreading mutations.Clinical epigenetics · 2021Article
- Inactivating Mutations of theCancers · 2021Article
- Mutated DNA Damage Repair Pathways Are Prognostic and Chemosensitivity Markers for Resected Colorectal Cancer Liver Metastases.Frontiers in oncology · 2021Article
- Tumor Microenvironment Analysis Identified Subtypes Associated With the Prognosis and the Tumor Response to Immunotherapy in Bladder Cancer.Frontiers in genetics · 2021Article
- Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.BMC medical genomics · 2020Article
- POLE and POLD1 pathogenic variants in the proofreading domain in papillary thyroid cancer.Endocrine connections · 2020Article
- The Macrophages-Microbiota Interplay in Colorectal Cancer (CRC)-Related Inflammation: Prognostic and Therapeutic Significance.International journal of molecular sciences · 2020Review
- The double-edged sword of cancer mutations: exploiting neoepitopes for the fight against cancer.Mutagenesis · 2020Review
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Authors and funding
14 authors at 2 institutions in 2 countries.
Funding
Abstract
Despite all the knowledge already gathered, the picture of somatic genetic changes in colorectal tumorigenesis is far from complete. Recently, germline and somatic mutations in the exonuclease domain of polymerase epsilon, catalytic subunit (POLE) gene have been reported in a small subset of microsatellite-stable and hypermutated colorectal carcinomas (CRCs), affecting the proofreading activity of the enzyme and leading to misincorporation of bases during DNA replication. To evaluate the role of POLE mutations in colorectal carcinogenesis, namely in advanced CRC, we searched for somatic mutations by Sanger sequencing in tumor DNA samples from 307 cases. Microsatellite instability and mutation analyses of a panel of oncogenes were performed in the tumors harboring POLE mutations. Three heterozygous mutations were found in two tumors, the c.857C>G, p.Pro286Arg, the c.901G>A, p.Asp301Asn, and the c.1376C>T, p.Ser459Phe. Of the POLE-mutated CRCs, one tumor was microsatellite-stable and the other had low microsatellite instability, whereas KRAS and PIK3CA mutations were found in one tumor each. We conclude that POLE somatic mutations exist but are rare in advanced CRC, with further larger studies being necessary to evaluate its biological and clinical implications.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.