{"id":"hum0543","version":1,"url":"https://humandbs.dbcls.jp/research/hum0543/v1","datePublished":"2026-06-10","versions":[{"version":1,"datePublished":"2026-06-10"}],"title":{"ja":"大腸癌における大規模ゲノム構造異常と癌ゲノム進化に関する研究","en":"Research on Large-Scale Genomic Structural Abnormalities and Cancer Genome Evolution in Colorectal Cancer"},"summary":{"aims":{"ja":"近年、全ゲノム重複は進行がんでもみられ、がんの転帰に関連するマクロ進化学的事象であることが示されている。しかしながら、全ゲノム重複による大規模なゲノム構造異常ががんゲノム進化にどう寄与するかは未だ不明な点が多い。大腸がんは、正常大腸粘膜上皮に複数のがん遺伝子・がん抑制遺伝子の異常が蓄積した結果、腺腫・粘膜内がん・浸潤がんへと進展していく多段階発がんが提唱され、発がんメカニズムが最もよく解明されている腫瘍の一つであるが、大腸がんにおいては全ゲノム重複などの大規模ゲノム構造異常が発がんに寄与するメカニズムの解明は進んでいない。本研究では、大腸がん組織を研究試料とし、多段階発がん過程における全ゲノム重複・染色体構造異常等の発生をmulti-region sequencing解析により推定し、がんの不均一性とがんクローンの進化との関連や腫瘍の進行・転移との関連を明らかにすることを目的とする。","en":"Although colorectal cancer is one of the tumors with the best-understood carcinogenesis mechanisms, proposed as a multistage process where multiple cancer genes and tumor suppressor gene abnormalities accumulate in normal colonic mucosal epithelium, leading to progression through adenoma, mucosal carcinoma, and invasive carcinoma, the mechanisms by which large-scale genomic structural abnormalities, such as whole-genome duplication, contribute to carcinogenesis remain poorly understood. This study aims to estimate the occurrence of chromosomal structural abnormalities during the multistage carcinogenesis process. It seeks to elucidate the relationship between cancer heterogeneity and the evolution of cancer clones, as well as the association with tumor progression and metastasis."},"methods":{"ja":"全ゲノムシークエンス","en":"whole genome sequencing"},"targets":{"ja":"大腸がん 62症例","en":"62 patients with colorectal cancer"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"大腸癌：62症例\n（日本人）","en":"colorectal cancer: 62 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS）","en":"NGS\n(WGS)"}},"releaseNote":{"ja":"大腸がん62症例のFFPE標本もしくは凍結標本から切除した腫瘍組織および非腫瘍組織から抽出したDNAを用いたwhole genome sequencing解析の結果をfastqファイルにて提供する。","en":"DNAs extracted from tumor and non-tumor tissues of 62 patients with colorectal cancer were used for the whole genome sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"谷内田 真一","en":"Shinichi Yachida"},"organization":{"name":{"ja":"大阪大学 がんゲノム情報学","en":"Department of Cancer Genome Informatics, Graduate School of Medicine, Osaka University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"国際共同研究に資する大規模日本人がんゲノム・オミックス・臨床データ統合解析とゲノム予防・医療推進","en":"Integrated Analysis of Large-Scale Japanese Cancer Genomic, Multi-Omics, and Clinical Data to Advance Precision Prevention and Genomic Medicine through International Collaboration"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP25ck0106800"]},{"title":{"ja":"大腸癌ハイリスク患者の癌発症に関わる腸内環境変動の解明とそれに基づく大腸癌個別化予防法の開発に関する研究","en":"Deciphering Gut Microenvironmental Dynamics Associated with Colorectal Carcinogenesis in High-Risk Individuals and Developing Personalized Strategies for Colorectal Cancer Prevention"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22ck0106546"]},{"title":{"ja":"大腸癌超ハイリスク群における便ならびに生検組織を用いた腸内環境理解に基づく大腸癌個別化予防法の開発","en":"Development of Personalized Colorectal Cancer Prevention Strategies Based on Integrated Characterization of the Gut Ecosystem Using Stool and Biopsy Specimens from Ultra-High-Risk Individuals"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP25ck0106799"]},{"title":{"ja":"オールジャパン体制による食道がん等消化器難治がんの全ゲノム配列データ及び臨床情報による先端的創薬開発・全ゲノム医療基盤構築","en":"Establishment of a Nationwide Whole-Genome Medicine Platform and Development of Innovative Therapeutics for Refractory Gastrointestinal Cancers through Comprehensive Integration of Whole-Genome Sequencing and Clinical Data"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP25ck0106874"]},{"title":{"ja":"日本人がんゲノム・オミックス統合解析による革新的な予防・診断・治療推進に資する大規模国際共同研究","en":"Large-Scale International Collaborative Research Leveraging Integrated Cancer Genomic and Multi-Omics Analyses in Japanese Populations to Advance Innovative Prevention, Diagnosis, and Treatment"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP26ck0106162"]},{"title":{"ja":"腸内細菌解析による抗悪性腫瘍剤の有害作用発現予測に関する研究開発","en":"Development of Gut Microbiome-Based Predictive Biomarkers for Adverse Events Associated with Anticancer Therapies"},"agency":{"ja":"日本医療研究開発機構（AMED）次世代がん医療創生研究事業（P-CREATE）","en":"Project for Cancer Research and Therapeutic Evolution (P-CREATE), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21cm0106477"]},{"title":{"ja":"食事、腸内細菌、炎症の多面的解析に基づく若年発症大腸癌の本態解明と易罹患性・早期診断検査法の開発","en":"Elucidating the Etiology of Early-Onset Colorectal Cancer through Integrated Analyses of Diet, Gut Microbiota, and Inflammation, and Developing Risk Assessment and Early Detection Strategies"},"agency":{"ja":"日本医療研究開発機構（AMED）次世代がん医療加速化研究事業（P-PROMOTE）","en":"Project for Promotion of Cancer Research and Therapeutic Evolution (P-PROMOTE), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP25ama221430"]},{"title":{"ja":"日米医学協力計画を基軸とした感染関連がんに関する疾患研究","en":"Disease-Oriented Research on Infection-Associated Cancers under the Framework of the U.S.-Japan Cooperative Medical Sciences Program"},"agency":{"ja":"日本医療研究開発機構（AMED）地球規模保健課題解決推進のための研究事業","en":"Research Program on the challenges of Global Health issues, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP23jk0210009"]},{"title":{"ja":"腸管局所マイクロバイオームの「個人差・性差」が大腸「未病状態」に及ぼす影響の解明と未病抑制戦略の開発","en":"Elucidating the Impact of Individual and Sex-Specific Variations in the Local Intestinal Microbiome on the Colorectal Pre-Disease State and Developing Microbiome-Based Preventive Strategies"},"agency":{"ja":"日本医療研究開発機構 革新的先端研究開発支援事業（AMED-CREST）","en":"Core Research and Evolutional Science and Technology, Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED-CREST)"},"grantIds":["JP26gm2010009"]},{"title":{"ja":"The ELDER Study：臓器老化の高精度測定によるがん発症タイミングの解明","en":"The ELDER Study: Defining the Timing of Cancer Initiation through High-Resolution Quantification of Organ-Specific Aging"},"agency":{"ja":"日本医療研究開発機構（AMED）医療分野国際科学技術共同研究開発推進事業（先端国際共同研究推進プログラム（ASPIRE））","en":"Advanced International Collaborative Research Program - Adopting Sustainable Partnerships for an Innovative Research Ecosystem (ASPIRE), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP26jf0126022"]},{"title":{"ja":"家族性大腸腺腫症を対象にしたメタゲノム解析とそれに基づく大腸癌発症進展機構の解明","en":"Metagenomic Characterization of Familial Adenomatous Polyposis and Its Application to Elucidating Mechanisms of Colorectal Tumor Initiation and Progression"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["20H03662"]},{"title":{"ja":"大腸Serrated pathwayにおける腸内環境変動の解明","en":"Characterization of Gut Microenvironmental Alterations Along the Serrated Pathway of Colorectal Tumorigenesis"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["23H02892"]}],"relatedPublications":[{"title":"Prevalence and chronology of colibactin-associated mutational processes and their microbiome spectra in Japanese colorectal cancer","doi":"https://doi.org/10.52843/cassyni.86lmq6","datasets":["JGAD001015"]}],"datasets":["JGAD001015"],"controlledAccessUsers":[]}