{"id":"hum0328","version":1,"url":"https://humandbs.dbcls.jp/research/hum0328/v1","datePublished":"2023-05-11","versions":[{"version":1,"datePublished":"2023-05-11"}],"title":{"ja":"日本人の進行性前立腺癌におけるDNA修復遺伝子異常の頻度に関する研究","en":"Frequency of germline variants in genes associated with DNA repair among adanced prostate cancer patients in Japan"},"summary":{"aims":{"ja":"日本人進行前立腺がん患者における生殖細胞系列でのDNA修復関連遺伝子異常の頻度について調べる","en":"To examine the frequency of germline variants in DNA repair-associated genes among advanced Japanese prostate cancer patients"},"methods":{"ja":"診断時に転移を有する、もしくは、治療中に去勢抵抗性を獲得した前立腺がん患者の血球DNAを収集した。これらの検体について27遺伝子の全エクソン領域を対象としたmultiple PCR-based target sequencingを実施した。","en":"Leukocyte DNA from patients with metastatic prostate cancer at diagnosis or those who developed castration resistance during treatment were collected from multiple institutions in Japan. Multiple PCR-based target sequences of entire exon regions of the 27 genes were conducted."},"targets":{"ja":"診断時に転移を有する、もしくは治療中に去勢抵抗性を獲得した前立腺がん患者の内、データ公開について同意を受けている129症例","en":"129 prostate cancer patients who were with metastasis at initial diagnosis or who developed castration-resistant prostate cancer during treatment and accepted data publication"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"前立腺癌：129症例\n（日本人）","en":"prostate cancer: 129 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target Capture）","en":"NGS\n(Target Capture)"}},"releaseNote":{"ja":"診断時に転移を有する、もしくは治療中に去勢抵抗性を獲得した前立腺がん129症例の末梢血から抽出したDNAを用いた、DNA修復に関わる27遺伝子の全エクソン領域のTarget Capture Sequencing解析データをfastqファイルにて提供する。","en":"DNAs extracted from peripheral blood cells of 129 prostate cancer patients who are with metstasis at intial diagnosis or who developed castration resistant prostate cancer during treatment were used for the target capture sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"赤松 秀輔","en":"Shusuke Akamatsu"},"organization":{"name":{"ja":"京都大学大学院医学研究科 泌尿器科学講座","en":"Department of Urology, Graduate School of Medicine, Kyoto University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"血中遊離DNA解析を応用した前立腺癌のDNA修復遺伝子異常の生物学的特性の解明","en":"Elucidating the biological effect of homologous recombination repair associated gene defect in prostate cancer using plasma cell-free DNA analysis"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["20H03814"]}],"relatedPublications":[{"title":"Prognostic significance of pathogenic variants in BRCA1, BRCA2, ATM and PALB2 genes in men undergoing hormonal therapy for advanced prostate cancer","doi":"https://doi.org/10.1038/s41416-022-01915-2","datasets":["JGAD000627"]}],"datasets":["JGAD000627"],"controlledAccessUsers":[]}