ArticleCancer science2020
Characterization of tumors with ultralow tumor mutational burden in Japanese cancer patients.
Article in Cancer science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed.
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- The "Cold Tumor" to "Hot Tumor" transformation strategy for triple-negative breast cancer: from mechanism to clinical translation.Molecular and cellular biochemistry · 2026Review
- Translating spatial transcriptomic signatures in adenosquamous carcinoma into bulk prognostic biomarkers in lung adenocarcinoma: a bottom-up approach.NPJ precision oncology · 2026Article
- Allelic Imbalance and Chromothripsis Lead to Diversity in Japanese Tumor Genomes With Whole-Genome Duplication.Cancer science · 2025Article
- Stratification of G2 pancreatic neuroendocrine tumors using a Ten Percent Ki-67 index cut-off based on clinicopathological and molecular analyses.Scientific reports · 2025Article
- Molecular features and prognostic factors of locally advanced microsatellite instability-high gastric cancer.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2024Article
- Case report: Achieving significant tumor reduction in advanced pancreatic adenocarcinoma.Frontiers in oncology · 2024Article
- Predicting TERT promoter mutation status usingNeuroradiology · 2023Article
- Incidence and clinical significance of 491 known fusion genes in a large cohort of Japanese patients with colorectal cancer.International journal of clinical oncology · 2023Article
- Molecular genetic positioning of small intestine and papilla of Vater carcinomas including clinicopathological classification.Cancer medicine · 2023Article
- Characterization of pancreatic cancer with ultra-low tumor mutational burden.Scientific reports · 2023Article
- Characterization of rare histological subtypes of ovarian cancer based on molecular profiling.Cancer medicine · 2023Article
- Comprehensive profiling of 1015 patients' exomes reveals genomic-clinical associations in colorectal cancer.Nature communications · 2022Article
- Hepatocellular carcinoma after a sustained virological response by direct-acting antivirals harbors TP53 inactivation.Cancer medicine · 2022Article
- Prognostic Value of Drug Targets Predicted Using Deep Bioinformatic Analysis of m6A-Associated lncRNA-Based Pancreatic Cancer Model Characteristics and Its Tumour Microenvironment.Frontiers in genetics · 2022Article
- Low Grade Papillary Sinonasal (Schneiderian) Carcinoma: A Series of Five Cases of a Unique Malignant Neoplasm with Comparison to Inverted Papilloma and Conventional Nonkeratinizing Squamous Cell Carcinoma.Head and neck pathology · 2021Article
- Whole exome sequencing and deep sequencing of esophageal squamous cell carcinoma and adenocarcinoma in Japanese patients using the Japanese version of the Genome Atlas, JCGA.Esophagus : official journal of the Japan Esophageal Society · 2021Article
- Characterization of tumors with ultralow tumor mutational burden in Japanese cancer patients.Cancer science · 2020Article
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14 authors.
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Abstract
Tumor mutational burden analysis using whole-exome sequencing highlights features of tumors with various mutations or known driver alterations. Cancers with few changes in the exon regions have unclear characteristics, even though low-mutated tumors are often detected in pan-cancer analysis. In the present study, we analyzed tumors with low tumor mutational burden listed in the Japanese version of The Cancer Genome Atlas, a data set of 5020 primary solid tumors. Our analysis revealed that detection rates of known driver mutations and copy number variation were decreased in samples with tumor mutational burden below 1.0 (ultralow tumor), compared with those in samples with low tumor mutational burden (≤5 mutations/Mb). This trend was also observed in The Cancer Genome Atlas data set. In the ultralow tumor mutational burden tumors, expression analysis showed decreased TP53 inactivation and chromosomal instability. TP53 inactivation frequently correlated with PI3K/mTOR-related gene expression, implying suppression of the PI3K/mTOR pathway in ultralow tumor mutational burden tumors. In common with mutational burden, the T cell-inflamed gene expression profiling signature was a potential marker for prediction of an immune checkpoint inhibitor response, and some ultralow tumor mutational burden tumor populations highly expressed this signature. Our analysis focused on how these tumors could provide insight into tumors with low somatic alteration that are difficult to detect solely using whole-exome sequencing.
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