{"id":"hum0574","version":1,"url":"https://humandbs.dbcls.jp/research/hum0574/v1","datePublished":"2026-07-24","versions":[{"version":1,"datePublished":"2026-07-24"}],"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":"Construction of 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（Promega, Madison, WI, USA）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","en":"Total RNA extracted from fresh frozen tissues using the RNeasy Plus Universal Mini Kit was used for RNA sequencing. Genomic DNA extracted from the FFPE and from fresh-frozen tissues using the Maxwell RSC DNA FFPE Kit and Maxwell RSC Tissue DNA Kit (Promega, Madison, WI, USA), respectively was used for whole exome 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例","en":"Two patients with rectal cancer (one with POLE mutation-positive, the other one with POLE mutation-negative), four patients with histologically confirmed gastric adenocarcinoma who were carriers of germline pathogenic variants (GPVs) in BRCA1/2 detected by germline BRCA1/2 testing."},"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（日本人）","en":"rectal cancer: 2 cases\ngastric adenocarcinoma: 4 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq）","en":"NGS\n(Exome, RNA-seq)"}},"releaseNote":{"ja":"直腸がん2症例の腫瘍組織から抽出したRNAを用いたRNA sequencing解析データ、ならびに、胃腺がん4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 exome sequencing解析データをfastqおよびtabファイルにて提供する。","en":"RNA extracted from tumor tissues from two patients with rectal cancer was used for the RNA sequencing analysis. DNA extracted from tumor and non-tumor tissues from four patients with gastric adenocarcinoma was used for the whole exome sequencing analysis. Fastq and tab 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"]}],"relatedPublications":[],"datasets":["JGAD001063","JGAD001064"],"controlledAccessUsers":[]}