{"id":"hum0355","version":1,"url":"https://humandbs.dbcls.jp/research/hum0355/v1","datePublished":"2023-06-19","versions":[{"version":1,"datePublished":"2023-06-19"}],"title":{"ja":"次世代シークエンスによる泌尿器科腫瘍のゲノム解析","en":"Genomic analysis of genitourinary tumors by next generation sequencing"},"summary":{"aims":{"ja":"泌尿器科腫瘍（副腎腫瘍、腎がん、腎盂がん、後腹膜腫瘍、尿管がん、尿膜管がん、膀胱がん、前立腺がん、尿道がん、陰茎がん、精巣腫瘍など）の遺伝子異常（変異・コピー数異常・構造異常など）およびエピジェネティック異常、トランスクリプトーム異常の検索を行うことで、泌尿器科腫瘍において各疾患単位の遺伝子異常プロファイルを明らかにする。同時に、患者背景・治療成績・予後などについて既存の資料を用いて検討することにより、各遺伝子異常プロファイル治療反応性や分子病態との関連について明らかにすることを目指す。","en":"To investigate genetic (variants, copy number alterations, structural abnormalities, etc.), epigenetic, and transcriptomic profiles of genitourinary tumors (adrenal, kidney, renal pelvis, retroperitoneal, ureter, ureteric duct, bladder, prostate, urethra, penis, testis, etc.). At the same time, by combining the profiles with clinical data (patient's background, treatment outcome, and prognosis), we clarify the relationship between the profiles and therapeutic efficacy, and molecular pathogenesis."},"methods":{"ja":"全ゲノムシーケンス解析、全エキソームシーケンス解析、RNAシーケンス解析、nCounterデジタルカウント解析（nCounter Human Immunology V2 panel使用）","en":"whole-genome sequencing (NGS), whole-exome sequencing (NGS), RNA-sequence (NGS), and digital multiplexed gene expression analysis using the NanoString nCounter system"},"targets":{"ja":"Von Hippel-Lindau（VHL）病に伴う遺伝性淡明細胞型腎細胞がん：10症例","en":"Ten patients with hereditary clear cell renal cell carcinoma (ccRCC) associated with Von Hippel-Lindau (VHL) disease"},"url":{"ja":[{"url":"https://www.ncc.go.jp/jp/ri/division/molecular_oncology/index.html","text":"https://www.ncc.go.jp/jp/ri/division/molecular_oncology/index.html"}],"en":[{"url":"https://www.ncc.go.jp/en/ri/division/molecular_oncology/index.html","text":"https://www.ncc.go.jp/en/ri/division/molecular_oncology/index.html"}]}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing, Expression profiling"},"targets":{"ja":"VHL病に伴う遺伝性淡明細胞型腎細胞癌：10症例\n（日本人）","en":"hereditary clear cell renal cell carcinoma associated with VHL disease: 10 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS、Exome、RNA-seq）、マイクロアレイ","en":"NGS\n(WGS, Exome, RNA-seq)\nMicroarray"}},"releaseNote":{"ja":"VHL病に伴う遺伝性淡明細胞型腎細胞がん10症例の腫瘍組織、非腫瘍組織および末梢血から抽出したDNA/RNAを用いた全ゲノムシーケンス解析、全エキソームシーケンス解析、RNAシーケンス解析、ならびにnCounterデジタルカウント解析データをbam、textファイルにて提供する。","en":"DNAs/RNAs extracted from tumor tissues, non-tumor tissues, and peripheral blood cells of patients with hereditary clear cell renal cell carcinoma (ccRCC) associated with Von Hippel-Lindau (VHL) disease were used for several analyses (whole genome sequencing, whole exome sequencing, RNA-sequence, and digital multiplexed gene expression). Bam and text files are provided."},"dataProviders":[{"name":{"ja":"片岡 圭亮","en":"Keisuke Kataoka"},"organization":{"name":{"ja":"国立がん研究センター研究所 分子腫瘍学分野","en":"Division of Molecular Oncology, National Cancer Center Research Institute"}}}],"researchProjects":[],"grants":[{"title":{"ja":"患者間・腫瘍間・腫瘍内における遺伝学的・免疫学的不均一性の統合的理解","en":"Elucidation of inter-patient, inter-tumor, and intra-tumor heterogeneity of genetic and immune status"},"agency":{"ja":"日本医療研究開発機構（AMED） 次世代がん医療加速化研究事業（P-PROMOTE）","en":"Project for Promotion of Cancer Research and Therapeutic Evolution (P-PROMOTE), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP23ama221510"]}],"relatedPublications":[{"title":"Inter- and intra-tumor heterogeneity of genetic and immune profiles in inherited renal cell carcinoma","doi":"https://doi.org/10.1016/j.celrep.2023.112736","datasets":["JGAD000663"]}],"datasets":["JGAD000663"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"Maher Eamonn","en":"Eamonn Maher"},"affiliation":{"ja":"Maher Department of Medical Genetics, University of Cambridge","en":"Maher  Department of Medical Genetics, University of Cambridge"},"country":{"ja":"イギリス","en":"United Kingdom"},"researchTitle":{"ja":"Molecular Pathology of Human Genetic Disease","en":"Molecular Pathology of Human Genetic Disease (HumGenDis) (https://medgen.medschl.cam.ac.uk/research/molecular-pathology-of-human-genetic-disease-humgendis-study/)"},"periodStart":"2023-04-06","periodEnd":"2024-07-20","datasets":["JGAD000663"]},{"principalInvestigator":{"en":"samra turajlic"},"affiliation":{"en":"The Francis Crick Institute"},"country":{"ja":"イギリス","en":"United Kingdom"},"researchTitle":{"en":"Tracking evolution of hereditary renal cell carcinomas "},"periodStart":"2025-04-24","periodEnd":"2027-09-01","datasets":["JGAD000663"]},{"principalInvestigator":{"en":"Pascal Schlosser"},"affiliation":{"en":"Institute of Genetic Epidemiology, Medical Center - University of Freiburg"},"country":{"ja":"ドイツ","en":"Germany"},"researchTitle":{"en":"Deregulation of mTOR signaling pathways and metabolic reprogramming in VHL-dependent clear cell renal cell carcinoma"},"periodStart":"2025-10-10","periodEnd":"2028-12-31","datasets":["JGAD000663"]}]}