{"id":"hum0301","version":1,"url":"https://humandbs.dbcls.jp/research/hum0301/v1","datePublished":"2021-11-29","versions":[{"version":1,"datePublished":"2021-11-29"}],"title":{"ja":"乳がん患者および高リスク者におけるゲノム異常と免疫状態との統合的解析研究（免疫ゲノムアトラスプロジェクト）","en":"An integrative analysis study of genomic abnormalities and immune status in breast cancer patients and high-risk individuals (Immuno-Genome Atlas Project)"},"summary":{"aims":{"ja":"日常診療で得られた検体の残余腫瘍及び正常乳腺検体及び研究用血液検体を用いて、腫瘍及び正常乳腺組織の遺伝子変異腫瘍局所及び末梢血の種々の免疫担当細胞や免疫担当因子を解析し、がん患者及び高リスク者におけるゲノム異常と免疫状態との関係性を明らかにする。腫瘍及び正常乳腺ゲノム異常と免疫常態の関係性をエンドポイントとし、副次的に免疫状態と臨床病理学的特徴、分子生物学的な特徴や治療効果や予後との関連について検討する。免疫学的なプロファイルの変化・違いについてはゲノム異常の有無さらには臨床的な背景でも患者を分けたうえで免疫細胞数や、免疫細胞表面マーカーの発現の違いなどをt検定やWilcoxon検定、Welch検定、Mann-Whitney検定、Log-rank検定などで解析する。","en":"To clarify the relationship between genomic abnormalities and immune status in cancer patients and high-risk individuals, we analyzed various immunocompetent cells/factors (immunological profile) in tumor tissues, normal mammary tissue, and peripheral blood cells for genetic mutations. The relationship between immune status and clinicopathological/biological features, treatment response, and prognosis were examined as a secondary endpoint."},"methods":{"ja":"ゲノムDNAをはQIAamp DNA Mini Kit / QIAamp Fast DNA Tissue Kit（新鮮凍結検体）あるいはGeneRead DNA FFPE Kit（FFPE検体）を用いて抽出したDNAを用いたTarget Capture Sequencing解析","en":"For target sequence, genomic DNA was extracted using QIAamp DNA Mini Kits or QIAamp Fast DNA Tissue Kit for fresh-frozen samples and GeneRead DNA FFPE Kit for formalin-fixed-paraffin-embedded (FFPE) samples."},"targets":{"ja":"乳がん26症例の腫瘍組織ならびに正常乳腺組織（新鮮凍結検体、FFPE検体）","en":"Tumor tissues and normal breast tissues from 26 patients with breast cancer (fresh frozen samples and FFPE samples)"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"乳癌：26症例\n（日本人）","en":"26 patients with breast cancer\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target Capture）","en":"NGS\n(Target Capture)"}},"releaseNote":{"ja":"乳がん26症例の腫瘍組織および正常組織（凍結検体、FFPE）から抽出したDNAを用いた464遺伝子のTarget Capture Sequencing解析データをbamファイルにて提供する。","en":"DNAs extracted from tumor tissues and normal breast tissues (fresh-frozen and FFPE samples) of 26 patients with breast cancer were used for the target capture sequencing analysis. Bam files are provided."},"dataProviders":[{"name":{"ja":"間野 博行","en":"Hiroyuki Mano"},"organization":{"name":{"ja":"国立がん研究センター研究所 細胞情報学分野","en":"Division of Cellular Signaling, National Cancer Center Research Institute"}}}],"researchProjects":[{"name":{"ja":"Immuno-Genome Atlas Project (iGAP)","en":"Immuno-Genome Atlas Project (iGAP)"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"革新的がん遺伝子機能解析法によるプレシジョンメディシンの実現","en":"Implementation of precision medicine by the application of an innovative method for functional evaluation of oncogenes."},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP19ck0106252"]}],"relatedPublications":[{"title":"MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples","doi":"https://doi.org/10.1038/s42003-021-02930-4","datasets":["JGAD000482"]}],"datasets":["JGAD000482"],"controlledAccessUsers":[]}