{"id":"hum0094","secondaryIds":[],"version":5,"url":"https://humandbs.dbcls.jp/research/hum0094/v5","datePublished":"2020-10-26","versions":[{"version":1,"datePublished":"2017-09-04"},{"version":2,"datePublished":"2018-01-22"},{"version":3,"datePublished":"2019-02-12"},{"version":4,"datePublished":"2020-08-14"},{"version":5,"datePublished":"2020-10-26"},{"version":6,"datePublished":"2021-01-29"},{"version":7,"datePublished":"2021-07-02"},{"version":8,"datePublished":"2021-10-22"},{"version":9,"datePublished":"2021-12-10"},{"version":10,"datePublished":"2022-05-23"},{"version":11,"datePublished":"2022-11-08"}],"title":{"ja":"悪性腫瘍のゲノム・エピゲノム解析による病態解明","en":"Genomic and epigenomic analysis of different types of cancer"},"summary":{"aims":{"ja":"ゲノム解析による乳がん、肺腺がん、および、大腸がんの病態解明","en":"Identification of oncogenic alteration in breast cancer, lung adenocarcinoma and colorectal cancer (CRC) through genomic analysis."},"methods":{"ja":"HiSeq 2000/2500によるWhole Genome Sequencing (WGS)、Whole Exome Sequencing (WES)、RNA-seq、RNA access、メチル化アレイ、および、SNPアレイ。WGS、WES、メチル化アレイ、および、SNPアレイは腫瘍組織とペア正常組織を解析している。","en":"Whole Genome Sequencing (WGS), Whole Exome Sequencing (WES), RNA-seq were performed with HiSeq 2000/2500. Methylation analysis was performed with Infinium MethylationEPIC Kit. SNP array was performed with HumanOmni2.5-8."},"targets":{"ja":"手術切除切片（腫瘍組織および非腫瘍組織）、末梢血（正常組織）\nWES：トリプルネガティブ乳がん36症例\n肺腺がん43症例（JGAD000110）＋126症例（JGAD000301）\nMSI-H大腸がん149症例\n肝転移を有する大腸がん12症例、肝転移を有さない大腸がん16症例\nWGS：トリプルネガティブ乳がん16症例（WESを実施した36症例に含まれる）\nRNA-seq：トリプルネガティブ乳がん23症例（WESを実施した36症例に含まれる）\nエストロゲン受容体陽性乳がん17症例\nHER2陽性乳がん15症例\n肺腺がん43症例（JGAD000111）＋126症例（JGAD000301）\nMSI-H大腸がん94症例\n肝転移を有する大腸がん12症例、肝転移を有さない大腸がん16症例\nRNA access：MSI-H大腸がん18症例\nメチル化アレイ：MSI-H大腸がん93症例\nSNPアレイ：MSI-H大腸がん25症例","en":"Surgically resected breast cancer, lung adenocarcinoma and CRC tissues and paired non-tumor tissues or peripheral blood cells (as normal tissues)\nWES: Triple negative breast cancer: 36 cases (including 16 cases used for WGS and 23 cases used for RNA-seq)\nLung adenocarcinoma: 43 cases (JGAD000110) + 126 cases (JGAD000301)\nMSI-H CRC: 149 cases\nCRC with liver metastasis: 12 cases, CRC without liver metastasis: 16 casess\nWGS: Triple negative breast cancer: 16 cases\nRNA-seq: Triple negative breast cancer: 23 cases\nEstrogen receptor-positive breast cancer: 17 cases\nHuman epidermal growth factor receptor 2 (HER2)-positive breast cancer: 15 cases\nLung adenocarcinoma: 43 cases (JGAD000111) + 126 cases (JGAD000301)\nMSI-H CRC: 94 cases\nCRC with liver metastasis: 12 cases, CRC without liver metastasis: 16 cases\nRNA access: MSI-H CRC: 18 cases\nMethylation array: MSI-H CRC: 93 cases\nSNP array: MSI-H CRC: 25 cases"},"url":{"ja":[{"url":"https://www.ncc.go.jp/jp/ri/division/genetics/index.html","text":"https://www.ncc.go.jp/jp/ri/division/genetics/index.html"}],"en":[{"url":"https://www.ncc.go.jp/en/ri/division/genetics/index.html","text":"https://www.ncc.go.jp/en/ri/division/genetics/index.html"}]}},"listingSummary":{},"releaseNote":{"ja":"肺腺がん126症例の腫瘍凍結検体およびペア非腫瘍組織から抽出したDNAおよびRNAを使用したExome解析およびRNA-seq解析の結果をbam（reference：hg38）もしくはfastq形式にて提供する。","en":"DNAs from fresh frozen tumor specimens and paired non-tumor tissues and RNAs from tumor specimens obtained from 126 lung adenocarcinoma patients were used for WES and RNA-seq (bam [reference: hg38] and fastq files)."},"dataProviders":[{"name":{"ja":"間野 博行","en":"Hiroyuki Mano"},"organization":{"name":{"ja":"国立がん研究センター研究所 細胞情報学分野","en":"Division of Cellular Signaling, National Cancer Center Research Institute"}}}],"researchProjects":[],"grants":[{"title":{"ja":"ヒト悪性腫瘍におけるRACがん遺伝子の発がん機構の解明","en":"Oncogenic mutations of RAC small GTPases in Human cancers"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["26430106"]},{"title":{"ja":"ヒト上皮性腫瘍の発生・進展機構の解明と新規治療標的の同定","en":"Elucidation of initiation and progression mechanism of human epithelial tumors towards identification of novel therapeutic targets"},"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":["JP17cm0106502"]},{"title":{"ja":"大規模ゲノム医療体制の確立と知識データベースの構築","en":"Establishment of infrastructure for genomic medicine and construction of knowledge database"},"agency":{"ja":"日本医療研究開発機構（AMED） 臨床ゲノム情報統合データベース整備事業","en":"Program for an Integrated Database of Clinical and Genomic Information, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP18kk0205003"]},{"title":{"ja":"革新的がん遺伝子機能解析法によるプレシジョンメディシンの実現","en":"Implementation of precision medicine by the application of an innovative method for functional evaluation of oncogenes."},"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":["JP18ck0106252"]},{"title":{"ja":"がん治療標的探索プロジェクト","en":"Project for novel therapeutic targets in cancer"},"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インキュベートタイプ（LEAP）","en":"Leading Advanced Projects for medical innovation, The Japan Agency for Medical Research and Development (AMED)"},"grantIds":null},{"title":{"ja":"RACがん遺伝子の発がんメカニズムの解明","en":"Analysis of molecular mechanisms of oncogenic activity of RAC small GTPase"},"agency":{"ja":"高松宮妃癌研究基金","en":"Grant from The Princess Takamatsu Cancer Research Fund"},"grantIds":null}],"relatedPublications":[{"title":"Integrative analysis of genomic alterations in triple-negative breast cancer in association with homologous recombination deficiency","doi":"https://doi.org/10.1371/journal.pgen.1006853","datasets":["JGAD000095"]},{"title":"Inactivating mutations and hypermethylation of the NKX2-1/TTF-1 gene in non-terminal respiratory unit-type lung adenocarcinomas.","doi":"https://doi.org/10.1111/cas.13313","datasets":["JGAD000110","JGAD000111"]},{"title":"Fusion Kinases Identified by Genomic Analyses of Sporadic Microsatellite Instability-High Colorectal Cancers","doi":"https://doi.org/10.1158/1078-0432.CCR-18-1574","datasets":["JGAD000122"]},{"title":"Genomic profiles of colorectal carcinoma with liver metastases and newly identified fusion genes","doi":"https://doi.org/10.1111/cas.14127","datasets":["JGAD000139"]},{"title":"Identification of Novel CD74-NRG2α Fusion From Comprehensive Profiling of Lung Adenocarcinoma in Japanese Never or Light Smokers","doi":"https://doi.org/10.1016/j.jtho.2020.01.021","datasets":["JGAD000301"]}],"datasets":["JGAD000095","JGAD000110","JGAD000122","JGAD000139","JGAD000301","JGAD000111"],"controlledAccessUsers":[{"principalInvestigator":{"en":"SUBHAJYOTI DE"},"affiliation":{"en":"Rutgers Cancer Institute, Rutgers the State University of New Jersey"},"country":{"ja":"アメリカ合衆国 (ニュージャージー州)","en":"New Jersey, United States"},"researchTitle":{"ja":"Computational method development for cancer genomic data","en":"Computational method development for cancer genomic data"},"periodStart":"2018-08-06","periodEnd":"2023-08-10","datasets":["JGAD000095"]},{"principalInvestigator":{"en":"Youping Deng"},"affiliation":{"en":"Department of Complementary & Integrative Medicine, University of Hawaii Manoa"},"country":{"ja":"アメリカ合衆国 (ハワイ州)","en":"Hawaii, United States"},"researchTitle":{"ja":"Identification of driver genes and somatic mutations for lung cancer diagnosis and prognosis","en":"Identification of driver genes and somatic mutations for lung cancer diagnosis and prognosis"},"periodStart":"2018-10-04","periodEnd":"2029-07-10","datasets":["JGAD000110","JGAD000301"]},{"principalInvestigator":{"ja":"万代 昌紀","en":"Masaki Mandai"},"affiliation":{"ja":"婦人科学産科学教室, 京都大学医学部医学研究科","en":"department of Gynecology and Obstetrics, Kyoto University Faculty of Medicene"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"多様な臨床情報を考慮した婦人科悪性腫瘍患者のオミックス解析（全ゲノム・全トランスクリプトーム・プロテオーム・メタボローム解析）による個別化治療の探索","en":"Integrated analyses of omics (genomics, transcriptomics, proteomics and metabolomics) associated with clinical variables for developing indivisualizedtreatment in gynecological malignancy"},"periodStart":"2018-10-04","periodEnd":"2025-04-14","datasets":["JGAD000095","JGAD000110","JGAD000111","JGAD000122"]},{"principalInvestigator":{"ja":"佐藤 哲也","en":"Tetsuya Sato"},"affiliation":{"ja":"基盤研究室, 合同会社H.U.グループ中央研究所","en":"Research Laboratory, H.U. Group Research Institute G.K."},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"制限公開クリニカルシーケンスデータを利用したリンチ症候群大腸がん関連マーカー遺伝子の探索","en":"Search for Lynch syndrome colorectal cancer-related genes using contolled-access clinical sequence data"},"periodStart":"2019-08-05","periodEnd":"2021-01-28","datasets":["JGAD000095","JGAD000122"]},{"principalInvestigator":{"ja":"白石 航也","en":"Kouya Shiraishi"},"affiliation":{"ja":"ゲノム生物学研究分野, 国立研究開発法人国立がん研究センター研究所","en":"Division of Genome Biology, National Cancer Research Institute"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"ゲノム解析に基づく宿主並びに腫瘍における免疫応答ネットワーク機構の解明","en":"Elucidation of immune-system networks between host and tumor based on genomic analysis"},"periodStart":"2019-08-05","periodEnd":"2029-03-31","datasets":["JGAD000095","JGAD000110","JGAD000111","JGAD000122"]},{"principalInvestigator":{"en":"Ruping Sun"},"affiliation":{"en":"Department of laboratory medicine and pathology, University of Minnesota"},"country":{"ja":"アメリカ合衆国 (ミネソタ州)","en":"Minnesota, United States"},"researchTitle":{"ja":"Accounting for Copy Number States in Quantifying Tumor Heterogeneity","en":"Accounting for Copy Number States in Quantifying Tumor Heterogeneity"},"periodStart":"2020-03-19","periodEnd":"2023-01-16","datasets":["JGAD000095"]},{"principalInvestigator":{"ja":"有田 正規","en":"Masanori Arita"},"affiliation":{"ja":"生命情報・DDBJ センター, 国立遺伝学研究所","en":"Bioinformation and DDBJ Center, National Institute of Genetics"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"DDBJ センターと NBDC による JGA 解析データの提供","en":"Provision of processed JGA data analyzed by DDBJ Center and NBDC"},"periodStart":"2021-10-07","periodEnd":"2030-03-31","datasets":["JGAD000095","JGAD000111","JGAD000122","JGAD000139","JGAD000301","JGAD000376","JGAD000407","JGAD000446","JGAD000457","JGAD000653"]},{"principalInvestigator":{"ja":"中岡 博史","en":"Hirofumi Nakaoka"},"affiliation":{"ja":"腫瘍ゲノム研究部, 公益財団法人佐々木研究所","en":"Department of Cancer Genome Research, Sasaki Institute"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"肺がん遺伝子解析研究","en":"Genetic analysis of lung cancer"},"periodStart":"2022-08-17","periodEnd":"2026-07-23","datasets":["JGAD000110","JGAD000301","JGAD000407"]},{"principalInvestigator":{"ja":"浜田 道昭","en":"Michiaki Hamada"},"affiliation":{"ja":"浜田研究室, 理工学術院, 早稲田大学","en":"Hamada Laboratory, Faculty of Science and Engineering, Waseda University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"RNA標的創薬データベースの構築","en":"Construction of RNA-targeted Drug Discovery Database"},"periodStart":"2023-01-05","periodEnd":"2027-10-31","datasets":["JGAD000095","JGAD000111","JGAD000122","JGAD000139","JGAD000301","JGAD000376","JGAD000407","JGAD000457"]},{"principalInvestigator":{"ja":"垣内 伸之","en":"Nobuyuki Kakiuchi"},"affiliation":{"ja":"白眉センター, 京都大学","en":"The Hakubi Center for Advanced Research, Kyoto University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"固形腫瘍における遺伝子異常の網羅的解析","en":"Comprehensive analysis of genetic aberrations in solid tumors"},"periodStart":"2023-04-06","periodEnd":"2028-03-31","datasets":["JGAD000122"]},{"principalInvestigator":{"ja":"晋 王","en":"Jin Wang"},"affiliation":{"ja":"骨と軟組織科, 中山大学附属腫瘍病院","en":"Department of Musculoskeletal Oncology, Sun Yat-sen University Cancer Center"},"country":{"ja":"中国","en":"China"},"researchTitle":{"ja":"硬繊維腫のゲノム学的研究","en":"Genomics study of desmoid tumor"},"periodStart":"2023-09-06","periodEnd":"2029-12-30","datasets":["JGAD000376"]},{"principalInvestigator":{"en":"Charles Swanton"},"affiliation":{"en":"The Francis Crick Institute"},"country":{"ja":"イギリス","en":"United Kingdom"},"researchTitle":{"en":"Studying lung cancer evolution in smokers and never-smokers"},"periodStart":"2024-09-03","periodEnd":"2026-05-07","datasets":["JGAD000110","JGAD000111","JGAD000301"]},{"principalInvestigator":{"ja":"鎌田 真由美","en":"Mayumi Kamada"},"affiliation":{"ja":"未来工学部 データサイエンス学科 生命情報デザイン, 北里大学","en":"Laboratory of Life Sciences Information Design, Department of Data Science, School of Frontier Engineering, Kitasato University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"肺癌の遺伝子発現解析の生物学的特性ならびに診断・治療におけるバイオマーカーの研究","en":"Investigation of Gene Expression Profiles in Lung Cancer: Biological Characteristics and Biomarker Development for Diagnosis and Therapy"},"periodStart":"2025-12-08","periodEnd":"2028-03-31","datasets":["JGAD000407"]}]}