{"id":"hum0516","version":1,"url":"https://humandbs.dbcls.jp/research/hum0516/v1","datePublished":"2026-05-20","versions":[{"version":1,"datePublished":"2026-05-20"}],"title":{"ja":"治療応答性転写に関連したゲノム不安定性と原発・進行再発乳癌患者の治療効果予測および予後予測の検討","en":"Nucleosome profiling of cell-free DNA enables detection of metastatic breast cancer, focusing on transcriptional dynamics"},"summary":{"aims":{"ja":"乳がんの予後や治療効果予測は臨床病理学的因子を中心に行われてきたが、その予測能は十分とは言えない。最近リキッドバイオプシーによる予測が開発されており、その低侵襲性や、治療過程の動的変動を含めた診断能が注目されている。当研究室では、エストロゲン感受性乳がんがホルモン療法耐性化を獲得する過程で、転写を活性化させる26遺伝子座を同定している。転写が活性するゲノム領域は、その不安定性とがんとの表現型との関連が報告されている。本研究では、治療抵抗性獲得の過程で変動するゲノム領域に着目して、臨床情報に紐づけられた原発性乳がんおよび再発乳がん患者血漿由来のcell free（cf） DNAの配列情報を次世代シーケンスにて解析し、治療耐性症例や再発症例で有意に検出されるゲノム断片やそれによって生じうるゲノム不安定性を見出し、がんの治療耐性化リスクの評価法を開発することを目的としている。","en":"Breast cancer is one of the most common cancers occurring worldwide in women. Even after curative treatment based on clinical subtypes according to molecular features, the risk of relapse still remains. Cell-free DNA (cfDNA) is an emerging tool for clinical cancer detection to monitor the risk of recurrence, therapeutic efficacy and tumor progression. In occurrence of relapse, genomic, transcriptomic and epigenetic profiles are altered, and reflected in cfDNA fragmentation patterns. In this study, we focus on the transcriptionally dynamic loci associated with therapy resistance in breast cancer, and develop the target sequencing approach using cfDNAs to detect individuals with recurrent/metastatic breast cancer."},"methods":{"ja":"乳がんで転写変動のある26遺伝子のゲノム領域のハイブリッドキャプチャー法によるターゲットシーケンシング","en":"cfDNA target sequencing"},"targets":{"ja":"乳がん（原発性および転移再発）127症例の末梢血血漿中cfDNA","en":"150 blood samples obtained from 99 patients with primary breast cancer (pBC) and 34 patients with recurrent/metastatic breast cancer (mBC)"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"乳癌：127症例\n（日本人）","en":"breast cancer: 127 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target Capture）","en":"NGS\n(Target Capture)"}},"releaseNote":{"ja":"原発性および転移再発乳がん127症例（原発性99症例105検体、転移再発34症例45検体） の末梢血血漿中cfDNAを用いた26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":"Cell-free DNA (cfDNA) in blood from from 99 patients (105 samples) with primary breast cancer and 34 patients (45 samples) with recurrent/metastatic breast cancer were used for the target capture sequencing analysis about 26 genes related to breast cancer. Bam files are provided."},"dataProviders":[{"name":{"ja":"渡邉 すぎ子","en":"Sugiko Watanabe"},"organization":{"name":{"ja":"熊本大学 発生医学研究所","en":"Institute of Molecular Embryology and Genetics, Kumamoto university"}}}],"researchProjects":[{"name":{"ja":"細胞医学分野","en":"Department of medical cell biology"},"url":{"ja":[{"url":"https://www.imeg.kumamoto-u.ac.jp/bunya_top/medical_cell_biology/","text":"https://www.imeg.kumamoto-u.ac.jp/bunya_top/medical_cell_biology/"}],"en":[{"url":"https://www.imeg.kumamoto-u.ac.jp/en/bunya_top/medical_cell_biology/","text":"https://www.imeg.kumamoto-u.ac.jp/en/bunya_top/medical_cell_biology/"}]}}],"grants":[{"title":{"ja":"乳がん血中セルフリーDNAのホルモン療法応答性遺伝子群解析と臨床応用","en":"Analysis of cell-free DNA targeted sequence to develop of novel strategies for endocrine therapy-resistant breast cancer"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["23K06699"]},{"title":{"ja":"細胞老化に伴う細胞質クロマチン断片蓄積の分子機構と発がんとの関係解明","en":"Molecular mechanism of accumulation of cytoplasmic chromatin in senescent cells, related to carcinogenesis"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["20K07589"]},{"title":{"ja":"細胞老化に伴うゲノム不安定性検出を目指した核外ゲノム次世代シーケンスと、がんのゲノム構造変異発生の分子機構","en":"Next-Generation Extranuclear Genome Sequencing for Detecting Genome Instability in Cellular Senescence and Molecular Mechanisms of Cancer Genomic Structural Variations"},"agency":{"ja":"高松宮妃癌研究基金","en":"Princess Takamatsu Cancer Research Fund"},"grantIds":["20-25240"]},{"title":{"ja":"細胞老化の分泌表現型SASPの作動原理の解明と制御法への応用","en":"Molecular basis of senescence-associated secretory phenotype and its medical application"},"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":["24K02240"]},{"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","en":"KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas"},"grantIds":["16H06279"]}],"relatedPublications":[{"title":"Transcriptionally informed nucleosome profiling of circulating cell-free DNA predicts breast cancer recurrence.","doi":"https://doi.org/10.1158/2767-9764.CRC-26-0263","datasets":["JGAD000954"]}],"datasets":["JGAD000954"],"controlledAccessUsers":[]}