{"id":"hum0479","version":1,"url":"https://humandbs.dbcls.jp/research/hum0479/v1","datePublished":"2025-04-14","versions":[{"version":1,"datePublished":"2025-04-14"}],"title":{"ja":"網羅的遺伝子解析技術を用いた抗EGFR抗体薬治療効果予測バイオマーカーの探索研究に関する多施設共同研究","en":"Biomarker Research for Anti EGFR Monoclonal Antibodies by Comprehensive Cancer Genomics"},"summary":{"aims":{"ja":"切除不能・進行再発大腸がん症例を対象に、網羅的遺伝子解析技術を用いて抗EGFR（Epidermal Growth Factor Receptor）抗体薬の臨床効果を予測する新しいバイオマーカーを探索する。探索は、抗EGFR抗体薬の投与を受けた登録症例の腫瘍組織および非腫瘍組織のホルマリン固定パラフィン包埋標本および血液検体から抽出したDNAを用いて、全エクソンシークエンス解析及び SNP（Single Nucleotide Polymorphism）アレイを用いたGWAS（Genome Wide Association Study）および CNV（Copy Number Variation）解析を行い、統計学的手法を用いて、治療効果や重篤な有害事象に関連した体細胞変異およびSNPを同定し、登録症例の治療効果との相関を検討する。","en":"To explore new biomarkers for predicting the effectiveness of an anti-epidermal growth factor receptor (anti-EGFR) antibody in patients with advanced colorectal cancer. The investigation involves analyzing the entire exome, conducting a genome-wide association study (GWAS), and analyzing copy number variations (CNVs) using single nucleotide polymorphism (SNP) arrays. Genetic material from both tumor and non-tumor tissues, as well as blood samples from patients who received the anti-EGFR antibody treatment, were used. The goal is to identify genetic mutations and SNPs associated with treatment efficacy and adverse events, and to assess the correlation between their presence and treatment effectiveness using statistical methods."},"methods":{"ja":"①を対象とした全エクソン解析、ならびに、➁を対象とした①の解析で見いだされたSNP/CNV領域のターゲットシーケンス解析","en":"Whole exome sequencing for exploratory cohort, Target capture sequencing for inference cohort"},"targets":{"ja":"切除不能・進行再発大腸がん\n①探索用コホート：92症例（2008年9月から2010年5月までにセツキシマブを含む治療を受けた症例）\n②統計的推測用コホート：150症例（2010 年6月から各施設倫理審査委員会承認日までにセツキシマブまたはパニツムマブを含む治療を受けた症例）","en":"Unresectable and advanced recurrent colorectal cancer\n- exploratory cohort: 92 patients treated with cetuximab\n- inference cohort: 150 patients treated with cetuximab or panitumumab"},"url":{"ja":[{"url":"https://www.ncc.go.jp/jp/information/pr_release/2015/0223/index.html","text":"https://www.ncc.go.jp/jp/information/pr_release/2015/0223/index.html"}],"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"切除不能・進行再発大腸癌：242症例\n（日本人）","en":"Unresectable and advanced recurrent colorectal cancer: 242 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、Target Capture）","en":"NGS\n(Exome, Target Capture)"}},"releaseNote":{"ja":"抗EGFR抗体薬の投与を受けた242症例の腫瘍組織、非腫瘍組織のFFPE検体より抽出したDNAを用いたWhole exome sequencing解析データもしくは候補遺伝子を含む全31遺伝子を対象としたTarget Capture Sequencing解析データをbamファイルにて提供する。","en":"DNAs were extracted from tumor or non-tumor tissues of unresectable and advanced recurrent colorectal cancer patients treated with anti-EGFR antibody. WES or target capture sequencing analysis was performed. Bam files are provided."},"dataProviders":[{"name":{"ja":"土原 一哉","en":"Katsuya Tsuchihara"},"organization":{"name":{"ja":"国立がん研究センター 先端医療開発センター","en":"Exploratory Oncology Research and Clinical Trial Center, National Cancer Center"}}}],"researchProjects":[{"name":{"ja":"BREAC Study","en":"BREAC Study"},"url":{"ja":[{"url":"https://www.ncc.go.jp/jp/information/pr_release/2015/0223/index.html","text":"https://www.ncc.go.jp/jp/information/pr_release/2015/0223/index.html"}],"en":null}}],"grants":[{"title":{"ja":"網羅的ゲノム解析に基づく抗EGFR抗体薬治療効果予測診断キット","en":"Development of a Predictive Diagnostic Kit for Evaluating the Efficacy of Anti-EGFR Antibody Therapy Based on Comprehensive Genomic Analysis"},"agency":{"ja":"国立研究開発法人科学技術振興機構（JST）研究成果最適展開支援プログラム A-STEP 本格研究開発ステージ 実用化挑戦タイプ","en":"Adaptable and Seamless Technology transfer Program through targetdriven R&D, Japan Science and Technology Agency (JST)"},"grantIds":["JPMJTT11S8"]}],"relatedPublications":[{"title":"Clinical significance of BRAF non-V600E mutations on the therapeutic effects of anti-EGFR monoclonal antibody treatment in patients with pretreated metastatic colorectal cancer: the Biomarker Research for anti-EGFR monoclonal Antibodies by Comprehensive Cancer genomics (BREAC) study","doi":"https://doi.org/10.1038/bjc.2017.308","datasets":["JGAD000921"]}],"datasets":["JGAD000921"],"controlledAccessUsers":[]}