ArticleScientific reports2018
Molecular profiling and sequential somatic mutation shift in hypermutator tumours harbouring POLE mutations.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 29 citations in OpenAlex.
- Evolution and Co-occurrence of PI3K Pathway Gene Mutations in Endometrial Carcinoma Molecular Subtypes at the Single-Cell Level.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- DNA polymerase ε and δ variants drive mutagenesis in polypurine tracts in human tumors.Cell reports · 2024Article
- Pairwise and higher-order epistatic effects among somatic cancer mutations across oncogenesis.Mathematical biosciences · 2023Article
- Molecular genetic positioning of small intestine and papilla of Vater carcinomas including clinicopathological classification.Cancer medicine · 2023Article
- Case report: POLE (P286R) mutation in a case of recurrent intestinal leakage and its treatment.Frontiers in oncology · 2023Article
- Overview and clinical significance of multiple mutations in individual genes in hepatocellular carcinoma.BMC cancer · 2022Article
- Hepatocellular carcinoma after a sustained virological response by direct-acting antivirals harbors TP53 inactivation.Cancer medicine · 2022Article
- Review
- Mouse model and human patient data reveal critical roles for Pten and p53 in suppressing POLE mutant tumor development.NAR cancer · 2022Article
- Clinical and Molecular Characterization ofJCO precision oncology · 2022Article
- Camptothecin Encapsulated in β-Cyclodextrin-EDTA-FeNanomaterials (Basel, Switzerland) · 2021Article
- Nanoparticle-Encapsulated Camptothecin: Epigenetic Modulation in DNA Repair Mechanisms in Colon Cancer Cells.Molecules (Basel, Switzerland) · 2021Article
- Effect of preoperative chemoradiotherapy on the immunological status of rectal cancer patients.Journal of radiation research · 2020Article
- Analysis of tumor mutational burden: correlation of five large gene panels with whole exome sequencing.Scientific reports · 2020Article
- Decoding whole-genome mutational signatures in 37 human pan-cancers by denoising sparse autoencoder neural network.Oncogene · 2020Article
- Prediction of S-1 adjuvant chemotherapy benefit in Stage II/III gastric cancer treatment based on comprehensive gene expression analysis.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2020Article
- Japanese version of The Cancer Genome Atlas, JCGA, established using fresh frozen tumors obtained from 5143 cancer patients.Cancer science · 2020Article
- Driver gene alterations and activated signaling pathways toward malignant progression of gastrointestinal stromal tumors.Cancer science · 2019Article
- Clinicopathological and mutational analyses of colorectal cancer with mutations in the POLE gene.Cancer medicine · 2019Article
- Mutational burden and signatures in 4000 Japanese cancers provide insights into tumorigenesis and response to therapy.Cancer science · 2019Article
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Defective DNA polymerase ε (POLE) proofreading leads to extensive somatic mutations that exhibit biased mutational properties; however, the characteristics of POLE-mutated tumours remain unclear. In the present study, we describe a molecular profile using whole exome sequencing based on the transition of somatic mutations in 10 POLE-mutated solid tumours that were obtained from 2,042 Japanese patients. The bias of accumulated variations in these mutants was quantified to follow a pattern of somatic mutations, thereby classifying the sequential mutation shift into three periods. During the period prior to occurrence of the aberrant POLE, bare accumulation of mutations in cancer-related genes was observed, whereas PTEN was highly mutated in conjunction with or subsequent to the event, suggesting that POLE and PTEN mutations were responsible for the development of POLE-mutated tumours. Furthermore, homologous recombination was restored following the occurrence of PTEN mutations. Our strategy for estimation of the footprint of somatic mutations may provide new insight towards the understanding of mutation-driven tumourigenesis.
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