{"id":"hum0385","version":2,"url":"https://humandbs.dbcls.jp/research/hum0385/v2","datePublished":"2024-01-09","versions":[{"version":1,"datePublished":"2023-12-14"},{"version":2,"datePublished":"2024-01-09"}],"title":{"ja":"混合型肝癌、細胆管細胞癌、Cytokeratin19陽性肝細胞癌、SOX9陽性肝細胞癌の網羅的DNA変異解析","en":"Comprehensive genetic analysis of Combined hepatocellular-cholangiocarcinoma, Cholangiolocarcinoma, Keratin 19-expressing hepatocellular carcinoma, and SOX9-expressing hepatocellular carcinoma"},"summary":{"aims":{"ja":"混合型肝がん・細胆管細胞がん・Cytokeratin（CK）19陽性肝がん・SOX9陽性肝がんの遺伝子変異を調査し、臨床病理学的特徴との関係性を明らかにする","en":"To investigate genetic mutations of Combined hepatocellular-cholangiocarcinoma, Cholangiolocarcinoma, Keratin 19-expressing hepatocellular carcinoma, and SOX9-expressing hepatocellular carcinoma and to clarify their association with clinicopathological features"},"methods":{"ja":"細胆管細胞がん、混合型肝がんの手術検体（非腫瘍組織および腫瘍組織）から抽出したDNAを用いた全エクソン解析","en":"We obtained non-tumor and tumor tissues from surgical specimens of cholangiolocarcinoma and combined hepatocellular-cholangiocarcinoma and extracted DNA from tissues, then performed whole-exome sequencing analysis."},"targets":{"ja":"細胆管細胞がん、混合型肝がん","en":"Cholangiolocarcinoma and combined hepatocellular-cholangiocarcinoma patients"},"url":{"ja":[{"url":"https://hbptsurgery.kuhp.kyoto-u.ac.jp/study/liver-regeneration-research/","text":"https://hbptsurgery.kuhp.kyoto-u.ac.jp/study/liver-regeneration-research/"}],"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"細胆管細胞癌：8症例\n混合型肝癌：13症例\n（日本人）","en":"Cholangiolocarcinoma: 8 cases\nCombined hepatocellular-cholangiocarcinoma: 13 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"混合型肝がんの腫瘍組織ならびに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ファイル形式で提供する。","en":"DNAs extracted from tumor and non-tumor tissues from patients with combined hepatocellular-cholangiocarcinoma were used for whole exome sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"石井 隆道","en":"Takamichi Ishii"},"organization":{"name":{"ja":"京都大学大学院医学研究科 肝胆膵・移植外科","en":"Department of Surgery, Graduate School of Medicine, Kyoto University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"癌幹細胞の観点から見た肝痛におけるゲノム不均一性の解明","en":"Elucidation of Genomic Heterogeneity in Hepatocellular Carcinoma from the Perspective of Cancer Stem Cells"},"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":["19K09145"]}],"relatedPublications":[{"title":"Integrated analyses of the genetic and clinicopathological features of cholangiolocarcinoma: cholangiolocarcinoma may be characterized by mismatch-repair deficiency.","doi":"https://doi.org/10.1002/path.6257","datasets":["JGAD000726"]},{"title":"Comprehensive analyses of the clinicopathological features and genomic mutations of combined hepatocellular-cholangiocarcinoma","doi":"https://doi.org/10.1111/hepr.13965","datasets":["JGAD000728"]}],"datasets":["JGAD000726","JGAD000728"],"controlledAccessUsers":[]}