{"id":"hum0094","secondaryIds":[],"version":2,"url":"https://humandbs.dbcls.jp/research/hum0094/v2","datePublished":"2018-01-22","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および肺腺がんの病態解明","en":"Identification of oncogenic alteration in breast cancer and lung adenocarcinoma through genomic analysis."},"methods":{"ja":"HiSeq2000/2500によるWhole Genome Sequencing (WGS)、Whole Exome Sequencing (WES)、RNA-seq。WGSおよびWES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), and RNA-seq were performed with HiSeq 2000/2500."},"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\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","en":"Surgically resected breast cancer 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\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"},"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43症例の切除切片（腫瘍組織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：hg19/hg38）もしくはfastq形式にて提供する。","en":"DNAs and RNAs extracted from surgically resected lung adenocarcinoma tissues and paired non-tumor tissues obtained from 43 lung adenocarcinoma patients were used for WES and RNA-seq (bam [reference: hg19/hg38] and fastq files)."},"dataProviders":[{"name":{"ja":"間野 博行","en":"Hiroyuki Mano"},"organization":{"name":{"ja":"東京大学大学院 医学系研究科 細胞情報学分野","en":"Department of Cellular Signaling, Graduate School of Medicine, The University of Tokyo"}}}],"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":"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（AMED-LEAP）","en":"Leading Advanced Projects for medical innovation, Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED-LEAP)"},"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"]}],"datasets":["JGAD000095","JGAD000110","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 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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"]}]}