{"id":"hum0200","version":4,"url":"https://humandbs.dbcls.jp/research/hum0200/v4","datePublished":"2022-03-02","versions":[{"version":1,"datePublished":"2021-03-29"},{"version":2,"datePublished":"2021-05-07"},{"version":3,"datePublished":"2021-10-01"},{"version":4,"datePublished":"2022-03-02"},{"version":5,"datePublished":"2022-08-29"},{"version":6,"datePublished":"2024-11-25"},{"version":7,"datePublished":"2026-02-04"}],"title":{"ja":"乳腺腫瘍の表現型にかかわる体細胞変異および遺伝子発現異常の解析","en":"Analysis of somatic mutations and gene expression abnormalities involved in mammary tumor phenotype"},"summary":{"aims":{"ja":"非浸潤性乳管がんの分子生物学的背景に基づいたリスク層別化因子の探索、および浸潤性乳管がんの転移過程の解析","en":"Search for risk stratification factors based on the molecular biological background of non-invasive ductal carcinoma and analysis of the metastatic process of invasive ductal carcinoma of the breast"},"methods":{"ja":"臨床的リスク因子に基づいて非浸潤性乳管がん症例、および浸潤性乳管がんを選択し、網羅的遺伝子解析によりリスク因子との関連を検討する。\n・浸潤性乳管がん：target capture sequencing（TC）解析、メチル化解析、空間トランスクリプトーム解析、single cell RNA sequencing（scRNA-seq）解析、semibulk RNA-seq解析、whole genome sequencing（WGS）解析、Enzymatic Methyl-seq（EM-seq）解析、targeted long-read methylation sequencing（t-nanoEM）解析を実施した。\n・非浸潤性乳がん：target capture sequencing（TC）解析、メチル化解析、空間トランスクリプトーム解析、single cell RNA sequencing（scRNA-seq）解析、semibulk RNA-seq解析、whole exome sequencing（Exome）解析、single cell copy number variant（scCNV）解析、whole genome sequencing（WGS）解析を実施した。","en":"Selected the patients with Ductal Carcinoma In Situ (DCIS) or Invasive Ductal Carcinoma (IDC) based on clinical risk factors and examined the association with risk factors by comprehensive gene analyses.\n- IDC: target capture sequencing (TC), methylation, spatial gene expression, single-cell RNA sequencing (scRNA-seq), semibulk RNA-seq, whole genome sequencing (WGS), Enzymatic Methyl-seq (EM-seq), targeted long-read methylation sequencing (t-nanoEM) analyses\n- DCIS: target capture sequencing (TC), methylation, spatial gene expression, single-cell RNA sequencing (scRNA-seq), semibulk RNA-seq, whole exome sequencing (Exome), single-cell copy number variant (scCNV), and whole genome sequencing (WGS) analyses"},"targets":{"ja":"ヒト非浸潤性乳管がん、浸潤性乳管がん","en":"Human Ductal Carcinoma In Situ (DCIS), Invasive Ductal Carcinoma (IDC)"},"url":{"ja":null,"en":null}},"listingSummary":{},"releaseNote":{"ja":"浸潤性乳管がん1症例の腫瘍組織から抽出したRNAを用いたVisium Spatial Gene Expression解析の結果を病理画像とともに提供する（fastqファイル、tifファイルおよびtsvファイル）。","en":"RNAs extracted from tumor tissues of an Invasive Ductal Carcinoma (IDC) patient were used for Visium Spatial Gene Expression Assay. Fastq files, tif files (histological image for Visium Spatial Gene Expression Assay) and a tsv file are provided."},"dataProviders":[{"name":{"ja":"永澤 慧","en":"Satoi Nagasawa"},"organization":{"name":{"ja":"聖マリアンナ医科大学 外科学 乳腺・内分泌外科","en":"Division of Breast and Endocrine Surgery, Department of Surgery St. Marianna University School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"先進ゲノム解析研究推進プラットフォーム","en":"Platform for Advanced Genome Science"},"agency":{"ja":"科学研究費助成事業 新学術領域研究（研究領域提案型）","en":"KAKENHI Grant-in-Aid for Scientific Research on Priority Areas (Research in a proposed research area)"},"grantIds":["16H06279"]},{"title":{"ja":"乳房非浸潤性乳管癌(DCIS)の治療最適化に向けた新規再発リスク因子の検討","en":"Investigation of novel risk factors for recurrence to optimize the treatment of ductal carcinoma in situ (DCIS) of the breast"},"agency":{"ja":"日本学術振興会藤田記念医学研究振興基金","en":"JSPS Fujita Memorial Fund for Medical Research"},"grantIds":null}],"relatedPublications":[{"title":"Efficient prediction of a spatial transcriptomics profile better characterizes breast cancer tissue sections without costly experimentation","doi":"https://doi.org/10.1038/s41598-022-07685-4","datasets":["JGAD000308","JGAD000396"]},{"title":"Semibulk RNA-seq analysis as a convenient method for measuring gene expression statuses in a local cellular environment","doi":"https://doi.org/10.1038/s41598-022-19391-2","datasets":["JGAD000502"]}],"datasets":["JGAD000287","JGAD000368","JGAD000307","JGAD000308","JGAD000396"],"controlledAccessUsers":[]}