ArticleCancer science2019
Mutational burden and signatures in 4000 Japanese cancers provide insights into tumorigenesis and response to therapy.
Article in Cancer science, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- A scoping review and meta-analysis on the prevalence of pan-tumour biomarkers (dMMR, MSI, high TMB) in different solid tumours.Scientific reports · 2022Pooled it
- Tumor mutation burden as a biomarker for lung cancer patients treated with pemetrexed and cisplatin (the JIPANG-TR).Cancer science · 2021Trial
- Allelic Imbalance and Chromothripsis Lead to Diversity in Japanese Tumor Genomes With Whole-Genome Duplication.Cancer science · 2025Article
- Pan-cancer analysis of COL15A1: an immunological and prognostic biomarker.Discover oncology · 2024Article
- Characteristics of the immune environment in prostate cancer as an adjunct to immunotherapy.Health science reports · 2024Article
- Pyroptosis-related gene signatures are associated with prognosis and tumor microenvironment infiltration in head and neck cancer.Health science reports · 2023Article
- Characterization of pancreatic cancer with ultra-low tumor mutational burden.Scientific reports · 2023Article
- Tumor cell enrichment by tissue suspension enables detection of mutations with low variant allele frequency and estimation of germline mutations.Scientific reports · 2022Article
- Deep Convolutional Neural Networks Detect Tumor Genotype from Pathological Tissue Images in Gastrointestinal Stromal Tumors.Cancers · 2021Article
- BMP4 and PHLDA1 are plausible drug-targetable candidate genes for KRAS G12A-, G12D-, and G12V-driven colorectal cancer.Molecular and cellular biochemistry · 2021Article
- Exome sequencing identifies novel somatic variants in African American esophageal squamous cell carcinoma.Scientific reports · 2021Article
- Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.Nature communications · 2021Article
- Mutational concordance analysis provides supportive information for double cancer diagnosis.BMC cancer · 2021Article
- Characterization of tumors with ultralow tumor mutational burden in Japanese cancer patients.Cancer science · 2020Article
- Mutational burden and signatures in 4000 Japanese cancers provide insights into tumorigenesis and response to therapy.Cancer science · 2019Article
Corrections and comments
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
Abstract
Tumor mutational burden (TMB) and mutational signatures reflect the process of mutation accumulation in cancer. However, the significance of these emerging characteristics remains unclear. In the present study, we used whole-exome sequencing to analyze the TMB and mutational signature in solid tumors of 4046 Japanese patients. Eight predominant signatures-microsatellite instability, smoking, POLE, APOBEC, UV, mismatch repair, double-strand break repair, and Signature 16-were observed in tumors with TMB higher than 1.0 mutation/Mb, whereas POLE and UV signatures only showed moderate correlation with TMB, suggesting the extensive accumulation of mutations due to defective POLE and UV exposure. The contribution ratio of Signature 16, which is associated with hepatocellular carcinoma in drinkers, was increased in hypopharynx cancer. Tumors with predominant microsatellite instability signature were potential candidates for treatment with immune checkpoint inhibitors such as pembrolizumab and were found in 2.8% of cases. Furthermore, based on microarray analysis, tumors with predominant signatures were classified into 2 subgroups depending on the expression of immune-related genes reflecting differences in the immune context of the tumor microenvironment. Tumor subpopulations differing in the content of infiltrating immune cells might respond differently to immunotherapeutics. An understanding of cancer characteristics based on TMB and mutational signatures could provide new insights into mutation-driven tumorigenesis.
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