{"id":"hum0175","version":1,"url":"https://humandbs.dbcls.jp/research/hum0175/v1","datePublished":"2019-10-02","versions":[{"version":1,"datePublished":"2019-10-02"},{"version":2,"datePublished":"2024-03-01"},{"version":3,"datePublished":"2026-05-19"}],"title":{"ja":"治療抵抗性・再発予測バイオマーカーならびに新規分子標的治療法開発のための婦人科腫瘍検体の収集、保管ならびにゲノム・エピゲノム解析","en":"Development of actionable molecular targets and/or biomarkers for prognostication and patient stratification in gynecological cancer based on whole-exome sequencing and epigenomic analysis"},"summary":{"aims":{"ja":"患者層別化のための新規バイオマーカーや治療抵抗性にかかわる関連分子を標的とした新規治療法の開発","en":"Development of actionable molecular targets and/or biomarkers for prognostication and patient stratification"},"methods":{"ja":"Illumina HiSeq 2000/NovaSeq 6000を使用したExome解析、Target Capture解析（596遺伝子）","en":"Exome analysis and target capture analysis (596 genes) by using Illumina HiSeq 2000/NovaSeq 6000"},"targets":{"ja":"子宮類内膜腺がん69症例の原発巣腫瘍組織および非腫瘍組織、子宮内膜増殖症30症例の腫瘍組織および非腫瘍組織、経口メドロキシプロゲステロン酢酸エステル（medroxyprogesterone acetate：MPA）ホルモン療法を施した66症例の腫瘍組織および非腫瘍組織","en":"primary tumor tissues and non-tumor tissues from 69 endometrial carcinoma patients, endometrial hyperplasia lesions and matched normal tissues/whole blood from 30 endometrial hyperplasia patients, endometrial hyperplasia lesions, atypical polypoid adenomyoma, normal endometrium, endometrial carcinoma and matched normal tissues/whole blood from 66 oral MPA (medroxyprogesterone acetate)-treatment cases"},"url":{"ja":null,"en":null}},"listingSummary":{},"releaseNote":{"ja":"子宮類内膜腺がん69症例の原発巣腫瘍組織（118検体）および非腫瘍組織（69検体）（計187検体）から抽出したDNAを用いたExome解析の結果をfastqファイルにて提供する。SureSelect Human All Exon V4またはV5によりExon領域にしぼり、Illumina HiSeq 2000にて平均長101塩基を解読した（Paired-end）。","en":"DNAs extracted from tumor or non-tumor tissues from 69 cases of endometrial carcinoma were used for the whole exome sequencing (fastq files). Exons were narrowed down by using of SureSelect Human All Exon V4 or V5 and read by Illumina HiSeq 2000 (Paired-end: 101 bp)."},"dataProviders":[{"name":{"ja":"竹島 信宏","en":"Nobuhiro Takeshima"},"organization":{"name":{"ja":"がん研有明病院 婦人科","en":"The Cancer Institute Hospital of JFCR"}}}],"researchProjects":[],"grants":[{"title":{"ja":"類内膜腺癌の個別化医療を目指したゲノムワイドな原因遺伝子・分子標的探索","en":"Genome-wide analyses of endometrial endometrioid carcinoma for early detection and personalized medicine."},"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":["26462543"]},{"title":{"ja":"1細胞発現解析による悪性腹水貯留の分子機序の解明","en":"Molecular analysis of malignant ascites formation by single-cell RNA-sequencing."},"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":["15K06861"]},{"title":{"ja":"子宮体癌時系列検体を用いた黄体ホルモン治療抵抗性・再発を規定する遺伝子変異の同定","en":"Identification of the progestin therapy resistance genes in time-course endometrial cancer samples."},"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":["17K11308"]},{"title":{"ja":"全ゲノムシーケンス解析による癌肉腫の責任遺伝子同定","en":"Whole genome sequencing analyses of uterine and ovarian carcinosarcoma."},"agency":{"ja":"科学研究費助成事業 若手研究（B）","en":"KAKENHI Grant-in-Aid for Young Scientists (B)"},"grantIds":["17K18337"]},{"title":{"ja":"子宮・卵巣癌肉腫の悪性度・予後に寄与するがん免疫微小環境の解析","en":"Immune microenvironment analyses of uterine and ovarian carcinosarcoma."},"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":["18K07338"]},{"title":{"ja":"空間的エピゲノム解析を用いた子宮体がんの腫瘍形成過程の解明と早期診断・予防のための新規バイオマーカーの同定","en":"Understanding of tumorigenic program and identification of novel biomarker for early detection and prevention of endometrial cancer through spatial epigenome analysis"},"agency":{"ja":"日本医療研究開発機構（AMED） 次世代がん医療加速化研究事業（P-PROMOTE）","en":"Project for Promotion of Cancer Research and Therapeutic Evolution (P-PROMOTE), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22ama221513"]},{"title":{"ja":"染色体高次構造調節因子 CTCF の子宮体癌における下流因子の探索","en":"Exploration of CTCF downstream targets in endometrial cancer"},"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":["JP20K09634"]},{"title":{"ja":"再発性および治療抵抗性卵巣がんに関与する変異遺伝子群の探索","en":"Exploration of relevant mutations associated with relapsing or refractory ovarian cancer."},"agency":{"ja":"車両競技公益資金記念財団助成金 がんの基礎的、先駆的研究 助成事業","en":"The Vehicle Racing Commemorative Foundation"},"grantIds":["5144","5274","5393"]}],"relatedPublications":[{"title":"Two Distinct Tumorigenic Processes in Endometrial Endometrioid Adenocarcinoma.","doi":"https://doi.org/10.1016/j.ajpath.2019.09.022","datasets":["JGAD000254"]},{"title":"Genetic and epigenetic alterations in precursor lesions of endometrial endometrioid carcinoma","doi":"https://doi.org/10.1002/path.6278","datasets":["JGAD000772"]},{"title":"Genomic and DNA methylomic factors associated with the efficacy of oral medroxyprogesterone acetate on endometrial neoplastic disease","doi":"https://doi.org/10.1016/j.ygyno.2025.09.004","datasets":["JGAD000955"]}],"datasets":["JGAD000254"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"万代 昌紀","en":"Masaki Mandai"},"affiliation":{"ja":"婦人科学産科学教室, 京都大学医学部医学研究科","en":"department of Gynecology and Obstetrics, Kyoto University Faculty of Medicene"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"多様な臨床情報を考慮した婦人科悪性腫瘍患者のオミックス解析（全ゲノム・全トランスクリプトーム・プロテオーム・メタボローム解析）による個別化治療の探索","en":"Integrated analyses of omics (genomics, transcriptomics, proteomics and metabolomics) associated with clinical variables for developing indivisualizedtreatment in gynecological malignancy"},"periodStart":"2018-10-04","periodEnd":"2025-04-14","datasets":["JGAD000254"]}]}