{"id":"hum0409","version":1,"url":"https://humandbs.dbcls.jp/research/hum0409/v1","datePublished":"2023-06-27","versions":[{"version":1,"datePublished":"2023-06-27"}],"title":{"ja":"抗がん剤治療におけるExceptional Responseをもたらす遺伝子の研究","en":"Analysis of genes that confer exceptional response in anticancer therapy"},"summary":{"aims":{"ja":"VEGF受容体阻害薬、マルチキナーゼ阻害薬、細胞傷害性抗がん剤などによるがん薬物療法において、Exceptional Responseの原因となる遺伝子異常を同定する。これらの情報をもとに、早期治験参加、適応外使用によるProof of Concept（POC）取得、医師主導・企業治験への展開を狙う。","en":"To identify genetic abnormalities that cause Exceptional Response in cancer drug therapy with VEGFR inhibitors, multi-kinase inhibitors, cytotoxic anticancer drugs, and others. Based on this information, we aim for early participation in clinical trials, acquisition of POC through off-label use, and development into investigator-initiated and corporate clinical trials."},"methods":{"ja":"Whole exome sequencing、RNA sequencing、cfDNA target sequencing","en":"Whole exome sequencing, Exome RNA sequencing, cfDNA target sequencing"},"targets":{"ja":"MDM2増幅内膜肉腫11症例のFFPE腫瘍組織から抽出したDNA（13検体）とRNA（12検体）、対照正常血液細胞から抽出したDNA（11検体）、ならびに、血中セルフリーDNA（cfDNA）（26検体）","en":"FFPE tumor tissue DNA (13 samples) and RNA (12 samples), control normal blood cell DNA (11 samples), cell-free DNA (cfDNA) in blood (26 samples) from 11 cases of intimal sarcoma with MDM2 amplification"},"url":{"ja":[{"url":"https://center6.umin.ac.jp/cgi-open-bin/ctr/ctr_view.cgi?recptno=R000019319","text":"https://center6.umin.ac.jp/cgi-open-bin/ctr/ctr_view.cgi?recptno=R000019319"}],"en":[{"url":"https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000019319","text":"https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000019319"}]}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing, Expression profiling"},"targets":{"ja":"MDM2増幅内膜肉腫：11症例\n（日本人）","en":"Intimal sarcoma with MDM2 amplification: 11 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq、Target Capture）","en":"NGS\n(Exome, RNA-seq, Target Capture)"}},"releaseNote":{"ja":"MDM2増幅内膜肉腫 11症例のFFPE腫瘍組織および正常血液細胞より抽出したDNA/RNAを用いたWhole exome sequencingおよびRNA sequencing、ならびに、血中セルフリーDNA 26検体を用いたTarget Capture Sequencing解析データをfastqおよびbamファイルにて提供する。","en":"- DNAs/RNAs were extracted from FFPE tumor tissues and normal blood cells from 11 patients with intimal sarcoma with MDM2 amplification. WES and RNA-seq analyses were performed. Fastq files are provided.\n- Cell-free DNA (cfDNA) in blood from 10 patients were used for the target capture sequencing analysis. Bam files are provided."},"dataProviders":[{"name":{"ja":"小山 隆文","en":"Takafumi Koyama"},"organization":{"name":{"ja":"国立がん研究センター中央病院 先端医療科","en":"Department of Experimental Therapeutics, National Cancer Center Hospital"}}}],"researchProjects":[{"name":{"ja":"NCCH1806","en":"NCCH1806"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"がん領域Clinical Innovation Network事業による超希少がんの臨床開発と基盤整備を行う総合研究","en":"Comprehensive research for clinical development and infrastructure development of super-rare cancers through the Clinical Innovation Network project of the oncology"},"agency":{"ja":"日本医療研究開発機構（AMED） 臨床研究・治験推進事業","en":"Project Promoting Clinical Trials for Development of New Drugs, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP16lk0201044"]},{"title":{"ja":"リキッドバイオプシーの開発と稼動性・臨床的有用性の検証研究","en":"Development of the precision liquid biopsy and evaluation of its feasibility and clinical utility"},"agency":{"ja":"国立がん研究センター研究開発費","en":"The National Cancer Center Research and Development Fund"},"grantIds":["2022-A-02"]}],"relatedPublications":[{"title":"Clinical activity and exploratory resistance mechanism of milademetan, an MDM2 inhibitor, in intimal sarcoma with MDM2 amplification","doi":"https://doi.org/10.1158/2159-8290.CD-23-0419","datasets":["JGAD000748"]}],"datasets":["JGAD000748"],"controlledAccessUsers":[]}