{"id":"hum0422","version":1,"url":"https://humandbs.dbcls.jp/research/hum0422/v1","datePublished":"2026-03-24","versions":[{"version":1,"datePublished":"2026-03-24"}],"title":{"ja":"子宮体がんの統合的ゲノム解析による病態解明を目指した多機関共同観察研究","en":"Multi-institutional observational study to elucidate the pathogenesis of endometrial carcinoma through integrated genomic analysis"},"summary":{"aims":{"ja":"子宮体がんは近年増加傾向にあり、予防法や治療法のさらなる開発が求められている。Type I子宮体がんは類内膜がんG1/G2の組織像をとり、エストロゲン依存性に発がんする。一方で、Type II子宮体がんは、閉経後に発症することが多く、エストロゲン非依存性である。近年のゲノム解析の結果から（1）POLE 変異を有する群（ultra-mutated）、（2）microsatellite instability（MSI）群（hypermutated）、（3）copy-number low 群、（4）copy-number high 群の 4 つのサブタイプが提唱されているが、病理組織とゲノム分類の関連の詳細についてはまだ十分に明らかにされていない。子宮体がんの予防法確立や治療法開発を進めるため、子宮体がんにおける発がん形式の特徴や各組織型の病態解明を目指す。","en":"Endometrial cancer (EC) incidence is rising, emphasizing the need for advancements in prevention and treatment. Type I ECs have endometrioid carcinoma G1/G2 histology and depend on estrogen, while Type II ECs occur post-menopause and are estrogen-independent. Genomic analysis has identified four subtypes: ultra-mutated (POLE mutation), hypermutated (microsatellite instability), copy-number low, and copy-number high groups. However, the relationship between tumor histopathology and the genomic classification needs further clarification. To develop effective prevention and treatment, we aim to understand EC's carcinogenesis and etiology."},"methods":{"ja":"Whole exome sequencing解析、RNA sequencing解析","en":"Whole exome sequencing, RNA sequencing"},"targets":{"ja":"子宮体がん89症例（新鮮凍結271検体）","en":"89 ECs"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing, Expression profiling"},"targets":{"ja":"子宮体癌：89症例\n（日本人）","en":"endometrial carcinoma: 89 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq）","en":"NGS\n(Exome, RNA-seq)"}},"releaseNote":{"ja":"子宮体がん89症例の新鮮凍結検体（腫瘍組織および非腫瘍組織）から抽出したDNA/RNAを用いたwhole exome sequencing解析ならびにRNA sequencing解析データをbamおよびfastqファイルにて提供する。","en":"DNA/RNA extracted from tumor tissues or non-tumor tissues from 89 endometrial carcinoma patients were used for the whole exome sequencing and RNA sequencing analyses. Bam and fastq files are provided."},"dataProviders":[{"name":{"ja":"河津 正人","en":"Masahito Kawazu"},"organization":{"name":{"ja":"千葉県がんセンター研究所 細胞治療開発研究部","en":"Division of Cell Therapy, Chiba Cancer Center Research Institute"}}}],"researchProjects":[],"grants":[{"title":{"ja":"子宮体癌の免疫回避に関わるゲノム異常の探索","en":"Genomic Alterations Driving Immune Evasion in Endometrial Cancer"},"agency":{"ja":"公益財団法人 上原記念生命科学財団研究助成金（2022年度）","en":"The Uehara Memorial Foundation (2022)"},"grantIds":null}],"relatedPublications":[],"datasets":["JGAD000894"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"井内 仁志","en":"Hitoshi Iuchi"},"affiliation":{"ja":"理工学術院総合研究所, 早稲田大学","en":"Waseda Research Institute for Science and Engineering, Waseda University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"マルチオミクス解析によるがんの包括的な理解","en":"A comprehensive understanding of cancer through multi-omics analysis"},"periodStart":"2026-09-07","periodEnd":"2029-07-31","datasets":["JGAD000894"]},{"principalInvestigator":{"ja":"谷川 道洋","en":"Michihiro Tanikawa"},"affiliation":{"ja":"女性診療科・産科, 東京大学医学部附属病院","en":"Department of obstetrics and gynecology, The University of Tokyo Hospital"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"子宮体癌・子宮肉腫及び子宮内膜増殖症の発生及び予後決定に関わる分子生物学的異常の検索","en":"Molecular Biological Analysis of Abnormalities Involved in the Development and Prognosis of Endometrial Cancer, Uterine Sarcoma, and Endometrial Hyperplasia"},"periodStart":"2026-09-07","periodEnd":"2030-03-31","datasets":["JGAD000894"]}]}