ArticleOncotarget2017
POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.
Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.International journal of clinical oncology · 2026Guideline
- 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
- PolED: a manually curated database of functional studies of POLE and POLD1 variants reported in humans.Database : the journal of biological databases and curation · 2025Article
- Exploring the basis of heterogeneity of cancer aggressiveness among the mutated POLE variants.Life science alliance · 2024Review
- Immune Checkpoint Inhibitors in pMMR/MSS Colorectal Cancer.Journal of gastrointestinal cancer · 2023Review
- The Spectrum of Germline Nucleotide Variants in Gastric Cancer Patients in the Kyrgyz Republic.Current issues in molecular biology · 2023Article
- Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.Molecular genetics and genomics : MGG · 2023Article
- Unraveling the impact of a germline heterozygousFrontiers in molecular biosciences · 2023Article
- Functional landscapes of POLE and POLD1 mutations in checkpoint blockade-dependent antitumor immunity.Nature genetics · 2022Article
- Fanconi Anemia Pathway in Colorectal Cancer: A Novel Opportunity for Diagnosis, Prognosis and Therapy.Journal of personalized medicine · 2022Review
- Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.Frontiers in genetics · 2022Article
- How many is too many? Polyposis syndromes and what to do next.Current opinion in gastroenterology · 2022Review
- POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.Oncogene · 2021Review
- Elevated DNA Polymerase Delta 1 Expression Correlates With Tumor Progression and Immunosuppressive Tumor Microenvironment in Hepatocellular Carcinoma.Frontiers in oncology · 2021Article
- Are Molecular Alterations Linked to Genetic Instability Worth to Be Included as Biomarkers for Directing or Excluding Melanoma Patients to Immunotherapy?Frontiers in oncology · 2021Review
- DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns.Frontiers in pediatrics · 2020Review
- Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas.Frontiers in pediatrics · 2020Review
- Current status of the genetic susceptibility in attenuated adenomatous polyposis.World journal of gastrointestinal oncology · 2019Review
- Review
Corrections and comments
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Authors and funding
22 authors at 10 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations in POLE and POLD1 have been shown to cause predisposition to colorectal multiple polyposis and a wide range of neoplasms, early-onset colorectal cancer being the most prevalent. In order to find additional mutations affecting the proofreading activity of these polymerases, we sequenced its exonuclease domain in 155 patients with multiple polyps or an early-onset colorectal cancer phenotype without alterations in the known hereditary colorectal cancer genes. Interestingly, none of the previously reported mutations in POLE and POLD1 were found. On the other hand, among the genetic variants detected, only two of them stood out as putative pathogenic in the POLE gene, c.1359 + 46del71 and c.1420G > A (p.Val474Ile). The first variant, detected in two families, was not proven to alter correct RNA splicing. Contrarily, c.1420G > A (p.Val474Ile) was detected in one early-onset colorectal cancer patient and located right next to the exonuclease domain. The pathogenicity of this change was suggested by its rarity and bioinformatics predictions, and it was further indicated by functional assays in Schizosaccharomyces pombe. This is the first study to functionally analyze a POLE genetic variant outside the exonuclease domain and widens the spectrum of genetic changes in this DNA polymerase that could lead to colorectal cancer predisposition.
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