ArticleGenome medicine2016
Genomic landscape of colorectal cancer in Japan: clinical implications of comprehensive genomic sequencing for precision medicine.
Article in Genome medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
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Who cites it
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 73 citations in OpenAlex.
- Well-differentiated G1 and G2 pancreatic neuroendocrine tumors: a meta-analysis of published expanded DNA sequencing data.Frontiers in endocrinology · 2024Pooled it
- KRAS in Colorectal Cancer: Tumorigenesis, Surgical Implications and Evolving Treatment Target.Current oncology (Toronto, Ont.) · 2026Review
- Refining Tumor Mutational Burden as a Predictive Biomarker for Pembrolizumab: A Real-World Analysis in Japanese Patients.Cancer science · 2026Article
- Downregulation of the Tumor Suppressor P53 Gene associated with the Progression of Clinical Staging and the Incidence of Distant Metastasis in Indonesian Colorectal Cancer.The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi · 2025Article
- Clinical Utility of Targeted Next-Generation Sequencing for Determining Human Epidermal Growth Factor Receptor 2 Status and Optimizing Targeted Therapy in Breast Cancer.World journal of oncology · 2025Article
- A genomic instability-associated lncRNA signature for predicting prognosis and biomarkers in lung adenocarcinoma.Scientific reports · 2024Article
- Copy number alteration is an independent prognostic biomarker in triple-negative breast cancer patients.Breast cancer (Tokyo, Japan) · 2023Article
- Article
- Differences in DNA damage repair gene mutations between left- and right-sided colorectal cancer.Cancer medicine · 2023Article
- Gene panel testing detects important genetic alterations in ulcerative colitis-associated colorectal neoplasia.Oncology letters · 2022Article
- Genomic and transcriptomic analysis of Korean colorectal cancer patients.Genes & genomics · 2022Article
- A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.Cell death & disease · 2022Article
- Article
- The effects of ARID1A mutations on colorectal cancer and associations with PD-L1 expression by stromal cells.Cancer reports (Hoboken, N.J.) · 2022Article
- Genomic profiles of Indonesian colorectal cancer patients.F1000Research · 2022Article
- Whole genome sequencing of Malaysian colorectal cancer patients reveals specific druggable somatic mutations.Frontiers in molecular biosciences · 2022Article
- Homologous Recombination Deficiency in Ovarian, Breast, Colorectal, Pancreatic, Non-Small Cell Lung and Prostate Cancers, and the Mechanisms of Resistance to PARP Inhibitors.Frontiers in oncology · 2022Review
- Genomic landscape of pathogenic mutation of APC, KRAS, TP53, PIK3CA, and MLH1 in Indonesian colorectal cancer.PloS one · 2022Article
- Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.PloS one · 2022Article
- Histopathological characteristics and artificial intelligence for predicting tumor mutational burden-high colorectal cancer.Journal of gastroenterology · 2021Article
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Authors and funding
28 authors at 10 institutions in 2 countries.
Funding
Abstract
backgroundComprehensive genomic sequencing (CGS) has the potential to revolutionize precision medicine for cancer patients across the globe. However, to date large-scale genomic sequencing of cancer patients has been limited to Western populations. In order to understand possible ethnic and geographic differences and to explore the broader application of CGS to other populations, we sequenced a panel of 415 important cancer genes to characterize clinically actionable genomic driver events in 201 Japanese patients with colorectal cancer (CRC).
methodsUsing next-generation sequencing methods, we examined all exons of 415 known cancer genes in Japanese CRC patients (n = 201) and evaluated for concordance among independent data obtained from US patients with CRC (n = 108) and from The Cancer Genome Atlas-CRC whole exome sequencing (WES) database (n = 224). Mutation data from non-hypermutated Japanese CRC patients were extracted and clustered by gene mutation patterns. Two different sets of genes from the 415-gene panel were used for clustering: 61 genes with frequent alteration in CRC and 26 genes that are clinically actionable in CRC.
resultsThe 415-gene panel is able to identify all of the critical mutations in tumor samples as well as WES, including identifying hypermutated tumors. Although the overall mutation spectrum of the Japanese patients is similar to that of the Western population, we found significant differences in the frequencies of mutations in ERBB2 and BRAF. We show that the 415-gene panel identifies a number of clinically actionable mutations in KRAS, NRAS, and BRAF that are not detected by hot-spot testing. We also discovered that 26% of cases have mutations in genes involved in DNA double-strand break repair pathway. Unsupervised clustering revealed that a panel of 26 genes can be used to classify the patients into eight different categories, each of which can optimally be treated with a particular combination therapy.
conclusionsUse of a panel of 415 genes can reliably identify all of the critical mutations in CRC patients and this information of CGS can be used to determine the most optimal treatment for patients of all ethnicities.
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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.