{"id":"hum0319","version":1,"url":"https://humandbs.dbcls.jp/research/hum0319/v1","datePublished":"2022-01-21","versions":[{"version":1,"datePublished":"2022-01-21"}],"title":{"ja":"遺伝子多型を用いた前立腺癌診断マーカーの開発 / 日本人の前立腺がん発症に関わるレアバリアントの同定","en":"Development of diagnostic markers for prostate cancer using genetic polymorphisms / Identification of Rare Variants Involved in the Development of Prostate Cancer in Japanese"},"summary":{"aims":{"ja":"血清中の前立腺特異抗原（prostate-specific antigen：PSA）高値や直腸診での異常等を認め、前立腺がんの確定診断のために前立腺生検を行う患者の血液を用いて、複数の遺伝子多型を組み合わせた前立腺がんリスク予測モデルを前向きに評価し、前立腺がん診断マーカーとしての性能を評価すること。また、前立腺がんのレアバリアントの検索を行うことで日本人の前立腺がん発症に関わるレアバリアントを同定すること。","en":"To prospectively evaluate a prostate cancer risk prediction model combining multiple genetic polymorphisms using blood samples from patients who have high serum prostate-specific antigen (PSA) or abnormalities on rectal examination and undergo prostate biopsy for the definitive diagnosis of prostate cancer, and to evaluate its performance as a diagnostic marker for prostate cancer. In addition, to identify rare variants involved in the development of prostate cancer in Japanese by searching for rare variants."},"methods":{"ja":"末梢血より抽出したDNAを用いた、マルチプレックスPCR法によるターゲットシーケンス。ターゲットは、日本人の前立腺がんと関連が報告されている55 SNPs（既存のリスクモデルで用いられた16 SNPsおよび追加の39 SNPs）、ならびに、前立腺がん発症との関連が報告されてる8遺伝子（ATM, BRCA1, BRCA2, BRIP1, CHEK2, HOXB13, NBN, PALB2）の全エクソン領域。","en":"DNA was extracted from peripheral blood samples taken prior to prostate biopsy. Targeted sequencing using multiplex PCR was performed to genotype 55 SNPs (16 SNPs used in the existing risk model and 39 additional SNPs) that have been reported to be associated with prostate cancer in Japan. We also performed targeted sequencing of all exonic regions of 8 genes (ATM, BRCA1, BRCA2, BRIP1, CHEK2, HOXB13, NBN, and PALB2) that have been reported to be associated with prostate cancer development."},"targets":{"ja":"前立腺がんが疑われ前立腺生検を予定された1,336名","en":"1,336 men with suspected prostate cancer scheduled for prostate biopsy"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"前立腺癌の確定診断のために前立腺生検を行う患者：1,336症例\n（日本人）","en":"1,336 men with suspected prostate cancer scheduled for prostate biopsy\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target Capture）","en":"NGS\n(Target Capture)"}},"releaseNote":{"ja":"前立腺がんの確定診断のために前立腺生検を行う1,336症例の末梢血から抽出したDNAを用いた、日本人の前立腺がんと関連が報告されている55 SNPsおよび、前立腺がん発症との関連が報告されてる8遺伝子の全エクソン領域のTarget Capture Sequencing解析データをfastqおよびvcfファイルにて提供する。","en":"DNAs extracted from peripheral blood cells of 1,336 men with suspected prostate cancer scheduled for prostate biopsy were used for the target capture sequencing analysis. Fastq and vcf files are provided."},"dataProviders":[{"name":{"ja":"赤松 秀輔","en":"Shusuke Akamatsu"},"organization":{"name":{"ja":"京都大学大学院医学研究科 泌尿器科学","en":"Department of Urology, Graduate School of Medicine, Kyoto University"}}}],"researchProjects":[{"name":{"ja":"Prostate Cancer Susceptibility Single Nucleotide Polymorphism (PCSSNP) study","en":"Prostate Cancer Susceptibility Single Nucleotide Polymorphism (PCSSNP) study"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"ゲノム網羅的解析情報を基盤とするオーダーメイドがん医療実現のための開発研究","en":"Research project for exploring genetic susceptibility to cancer and biomarkers for personalized cancer medicine"},"agency":{"ja":"日本医療研究開発機構（AMED） オーダーメイド医療の実現プログラム","en":"Tailor-Made Medical Treatment with the BioBank Japan Project (BBJ), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP17km0506001"]},{"title":{"ja":"Prevalence of germline and somatic DNA repair gene mutations in Japanese prostate cancer patients.","en":"Prevalence of germline and somatic DNA repair gene mutations in Japanese prostate cancer patients."},"agency":{"ja":"アストラゼネカ Externally Sponsored Research","en":"Externally Sponsored Research by AstraZeneca"},"grantIds":["NCR-17-13159"]}],"relatedPublications":[{"title":"Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy","doi":"https://doi.org/10.1093/jncics/pkac001","datasets":["JGAD000604"]}],"datasets":["JGAD000604"],"controlledAccessUsers":[]}