{"id":"hum0060","version":1,"url":"https://humandbs.dbcls.jp/research/hum0060/v1","datePublished":"2018-04-03","versions":[{"version":1,"datePublished":"2018-04-03"}],"title":{"ja":"乳がんの再発/転移に特徴的な遺伝子変異の同定","en":"Identification of genetic mutations characteristic for recurrence and metastasis of breast cancer"},"summary":{"aims":{"ja":"再発・転移性乳がんの原発巣と再発巣の腫瘍組織を同一患者から採取し、全エクソンシーケンス解析（Whole Exome Sequencing: WES）等による分子プロファイリングを実施することで、再発・転移性乳がんの特徴を検出する。","en":"To find the characteristics of recurrent / metastatic breast cancers by carrying out a \"molecular profiling\", mainly the exome sequence analysis of cancerous tissues of the primary and recurrence tumors from the same patient with recurrent / metastatic breast cancer."},"methods":{"ja":"Illumina HiSeq 2000を使用したWES","en":"Whole exome sequencing by using of Illumina HiSeq 2000"},"targets":{"ja":"乳がん65症例の非腫瘍組織、原発巣（腫瘍組織）、および、転移巣（腫瘍組織）の合計175検体","en":"Total of 175 normal, primary tumor, and metastasis tumor samples from 65 breast cancer patients"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"再発・転移性乳癌：65症例\n（日本人）","en":"65 recurrent / metastatic breast cancer patients\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"再発・転移性乳がんの65症例の非腫瘍組織、原発巣（腫瘍組織）、および、転移巣（腫瘍組織）の合計175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 V5 + lincRNAを用いてExon領域にしぼりIllumina HiSeq 2000にて平均長100塩基のDNA断片を解読した（Paired-end）。","en":"DNAs extracted from 175 normal, primary tumor and metastasis tumor samples from 65 breast cancer patients were used for the whole exome sequencing (fastq files).\nExons were narrowed down by using of SureSelect Human All Exon V5 + lincRNA and read by Illumina HiSeq 2000 (paired-end: 100 bp)."},"dataProviders":[{"name":{"ja":"三木 義男","en":"Yoshio Miki"},"organization":{"name":{"ja":"東京医科歯科大学 難治疾患研究所","en":"Medical Research Institute, Tokyo Medical and Dental University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"分子プロファイリングによる新規標的同定を通じた難治がん治療法開発（再発性乳がんに特徴的な新規遺伝子変異の同定）","en":"Development of the Intractable Cancer Therapies through the New Target Identification by the Molecular Profiling"},"agency":{"ja":"日本医療研究開発機構（AMED） 次世代がん研究シーズ戦略的育成プログラム（P-DIRECT）","en":"Project for Development of Innovative Research on Cancer Therapeutics (P-DIRECT), Japan Agency for Medical Research and Development (AMED)"},"grantIds":null},{"title":{"ja":"先進的がん治療法開発のためのマルチオミック解析による基盤的基礎研究（患者腫瘍検体のゲノム・エピゲノム情報解析とデータベース構築）"},"agency":{"ja":"科学研究費助成事業（科学研究費補助金）（特定奨励費）","en":"JSPS KAKENHI"},"grantIds":null}],"relatedPublications":[],"datasets":["JGAD000075"],"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":["JGAD000075"]},{"principalInvestigator":{"ja":"河野 隆志","en":"Takashi Kohno"},"affiliation":{"ja":"ゲノム生物学研究分野, 国立研究開発法人国立がん研究センター研究所","en":"Division of Genome Biology, National Cancer Center Research Institute"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"AYA(Adolescence and Young Adult)世代がんの個別化予防に資する遺伝要因の同定を目指す研究","en":"Identification of genetic risk factors in AYA(Adolescence and Young Adult) cancer"},"periodStart":"2021-09-28","periodEnd":"2028-12-31","datasets":["JGAD000075"]}]}