{"id":"hum0574","secondaryIds":[],"version":2,"url":"https://humandbs.dbcls.jp/research/hum0574/v2","datePublished":"2026-11-04","versions":[{"version":1,"datePublished":"2026-07-24"},{"version":2,"datePublished":"2026-11-04"}],"title":{"ja":"悪性腫瘍におけるゲノム解析データベース構築に関する研究","en":"Research on constructing a genome analysis database for malignant tumors"},"summary":{"aims":{"ja":"悪性腫瘍における包括的なゲノム解析データベースを構築し、悪性腫瘍の病態を多角的に解析することにより、ゲノム情報と臨床経過との関連の解明、人工知能を用いた診断技術の開発、新規治療の開発を行うこと。","en":"To build a comprehensive genome analysis database for malignant tumors and to analyze the pathology of malignant tumors from multiple angles, thereby clarifying the relationship between genome information and clinical course, developing diagnostic techniques using artificial intelligence, and developing new treatments."},"methods":{"ja":"新鮮凍結組織からRNeasy Plus Universal Mini Kitを用いて抽出したtotal RNAを対象としたRNA sequencing、FFPE 組織および新鮮凍結組織から、それぞれMaxwell RSC DNA FFPE KitおよびMaxwell RSC Tissue DNA Kitを用いて抽出したDNAを対象とした全エクソームシークエンス、新鮮凍結組織からMaxwell 16 LEV Blood DNA Kitを用いて抽出したDNAを対象とした全ゲノムシークエンス","en":"Total RNA extracted from fresh frozen tissues using the RNeasy Plus Universal Mini Kit was used for RNA sequencing.\nGenomic DNA extracted from the FFPE and from fresh-frozen tissues using the Maxwell RSC DNA FFPE Kit and Maxwell RSC Tissue DNA Kit, respectively was used for whole exome sequencing.\nGenomic DNA extracted from fresh frozen tissues using the Maxwell 16 LEV Blood DNA Kit was used for whole genome sequencing."},"targets":{"ja":"直腸がん：2症例（POLE変異陽性直腸がんとPOLE変異陰性直腸がん）、BRCA1/2のgermline病的バリアントを有する胃腺がん：4症例、\n根治的外科切除を施行された大腸がん：32症例","en":"Two patients with rectal cancer (one with POLE mutation-positive, the other one with POLE mutation-negative), 4 patients with histologically confirmed gastric adenocarcinoma who were carriers of germline pathogenic variants (GPVs) in BRCA1/2 detected by germline BRCA1/2 testing,\n32 patients with colorectal cancer who underwent curative surgical resection."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing, Expression profiling"},"targets":{"ja":"直腸癌：2症例\n胃腺癌：4症例\n大腸癌：32症例\n（日本人）","en":"rectal cancer: 2 cases\ngastric adenocarcinoma: 4 cases\ncolorectal cancer: 32 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq、WGS）","en":"NGS\n(Exome, RNA-seq, WGS)"}},"releaseNote":{"ja":"大腸がん32症例の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解析データをfastqファイルにて提供する。","en":"DNA extracted from tumor and non-tumor tissues from 32 patients with colorectal cancer was used for the whole genome sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"島田 能史","en":"Yoshifumi Shimada"},"organization":{"name":{"ja":"新潟大学大学院医歯学総合研究科 消化器・一般外科学","en":"Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences"}}},{"name":{"ja":"市川 寛","en":"Hiroshi Ichikawa"},"organization":{"name":{"ja":"新潟大学大学院医歯学総合研究科 消化器・一般外科学","en":"Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences"}}}],"researchProjects":[],"grants":[{"title":{"ja":"直腸癌の化学放射線療法の治療効果に関わる免疫応答の変化に着目した分子機構の解明","en":"Elucidation of the molecular mechanisms underlying the response to chemoradiotherapy in rectal cancer through analysis of dynamic immune responses"},"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":["25K11923"]},{"title":{"ja":"胚細胞性相同組換え修復遺伝子異常を伴う胃癌の分子生物学的特徴と臨床転帰の解明","en":"Molecular Characteristics and Clinical Outcome of Gastric Cancer with Germline Mutation in Homologous Recombination Repair Genes"},"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":["25K12021"]},{"title":{"ja":"日本人患者の癌遺伝子変異と治療法適合性に関する研究","en":"Research on Cancer Gene Mutations and Their Association with Treatment Selection in Japanese Patients"},"agency":{"ja":"デンカ株式会社研究助成金","en":"Research Grant from Denka Company Limited"},"grantIds":["J15K0024"]},{"title":{"ja":"日本人患者の癌遺伝子変異と治療法適合性に関する実用化研究","en":"Translational Research on Cancer Gene Mutations and Their Clinical Application to Treatment Selection in Japanese Patients"},"agency":{"ja":"デンカ株式会社研究助成金","en":"Research Grant from Denka Company Limited"},"grantIds":["J16K0144"]},{"title":{"ja":"日本人患者の癌遺伝子変異と治療法適合性に関する実用化研究‐癌遺伝子変異検査におけるゲノムデータの管理方法の検討‐","en":"Translational Research on Cancer Gene Mutations and Their Clinical Application to Treatment Selection in Japanese Patients: Evaluation of Genomic Data Management Methods in Cancer Genetic Testing"},"agency":{"ja":"デンカ株式会社研究助成金","en":"Research Grant from Denka Company Limited"},"grantIds":["J16K0145"]},{"title":{"ja":"癌の治療標的遺伝子診断における次世代シークエンサーを用いた遺伝子変異検査（CANCERPLEX-JP®435遺伝子パネル）臨床性能評価試験","en":"Clinical Performance Evaluation of Next-Generation Sequencing-Based Genetic Testing Using the CANCERPLEX-JP® 435-Gene Panel for Identifying Therapeutic Targets in Cancer"},"agency":{"ja":"デンカ株式会社研究助成金","en":"Research Grant from Denka Company Limited"},"grantIds":["J19J0067"]},{"title":{"ja":"次世代シークエンサーを用いた癌ゲノム医療システム基盤構築に関する研究","en":"Research on the Development of an Infrastructure for Cancer Genomic Medicine Using Next-Generation Sequencing"},"agency":{"ja":"新潟県研究助成金","en":"Research Grant from Niigata Prefecture"},"grantIds":["J24K0015","J25K0021"]}],"relatedPublications":[],"datasets":["JGAD001063","JGAD001064","JGAD001079"],"controlledAccessUsers":[]}