{"id":"hum0222","version":1,"url":"https://humandbs.dbcls.jp/research/hum0222/v1","datePublished":"2020-03-13","versions":[{"version":1,"datePublished":"2020-03-13"}],"title":{"ja":"NGS技術を駆使した遺伝学的解析による家族性乳がんの原因遺伝子同定と標準化医療構築","en":"Identification of responsible genes and development of standardized medicine for familial breast cancer by genetic analysis with NGS technology"},"summary":{"aims":{"ja":"乳がん組織における体細胞バリアントと生殖細胞系列バリアントとを合わせて解析することにより、日本人における家族性乳がんの既知原因遺伝子のバリアントアレルによる発症リスクを明らかにすること","en":"To clarify risk of germline variants of known causal genes for Hereditary Breast Ovarian Cancer Syndrome in Japan by combinatorial analysis of somatic and germline variants in the breast cancer tissue."},"methods":{"ja":"Illumina HiSeq 2000を使用したTarget Capture解析","en":"Target caputure analysis by using Illumina HiSeq 2000"},"targets":{"ja":"乳がん108症例の末梢血と原発巣のがん組織の124検体","en":"108 whole blood and 124 primary tumor samples from familial breast cancer patients"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"乳癌：115症例\n（日本人）","en":"115 breast cancer patients\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target Capture）","en":"NGS\n(Target Capture)"}},"releaseNote":{"ja":"乳がん115症例の末梢血と原発巣腫瘍組織から抽出したDNAを用いたTarget Capture Sequencing解析結果をfastqファイルにて提供する。","en":"DNAs extracted from primary tumor samples and peripheral blood of 115 patients with breast cancer were used for a target capture sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"大野 真司","en":"Shinji Ohno"},"organization":{"name":{"ja":"がん研有明病院 乳腺センター","en":"The Cancer Institute Hospital of JFCR"}}}],"researchProjects":[],"grants":[{"title":{"ja":"NGS技術を駆使した遺伝学的解析による家族性乳がんの原因遺伝子同定と標準化医療構築","en":"Identification of responsible genes and development of standardized medicine for familial breast cancer by genetic analysis with NGS technology"},"agency":{"ja":"日本医療研究開発機構（AMED） 次世代がん医療創生研究事業（P-CREATE）","en":"Project for Cancer Research and Therapeutic Evolution (P-CREATE), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP16cm0106503"]}],"relatedPublications":[{"title":"Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome","doi":"https://doi.org/10.1038/s41523-020-0163-1","datasets":["JGAD000315"]}],"datasets":["JGAD000315"],"controlledAccessUsers":[]}