{"id":"hum0061","version":1,"url":"https://humandbs.dbcls.jp/research/hum0061/v1","datePublished":"2017-02-20","versions":[{"version":1,"datePublished":"2017-02-20"}],"title":{"ja":"全ゲノムあるいは全エクソン解析による家族性腫瘍原因遺伝子の同定","en":"Searching causative genes of familial tumors using whole genome / exome sequencing"},"summary":{"aims":{"ja":"多発性肺がん同胞症例の原因遺伝子異常を同定する。","en":"To identify causative genetic aberrations in multiple primary lung cancer"},"methods":{"ja":"全エキソームシーケンス解析","en":"Whole exome sequencing (Illumina HiSeq 2000)"},"targets":{"ja":"多発性肺がん同胞2症例","en":"Siblings developed multiple primary lung cancers"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"多発性肺癌同胞：2症例\n（日本人）","en":"Siblings developed multiple primary lung cancers\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"家族性多発性肺がん2症例（同胞）の末梢血より抽出したgDNAを使用したExome解析の結果をFastqファイルにて提供する。\nBGI exome sequencing serviceを使用してExon領域にしぼり、HiSeq 2000にて平均長 90塩基のDNA断片を解読した（Paired-end）。","en":"gDNAs extracted from peripheral blood cells of siblings developed multiple primary lung cancers were used for the whole exome sequencing (fastq files). DNA fragments containing whole coding exons were concentrated using BGI exome sequencing service and a multiplex sequencing was performed by using of the Illumina HiSeq 2000 sequencer (90 bp, Paired-end)."},"dataProviders":[{"name":{"ja":"加藤 菊也","en":"Kikuya Kato"},"organization":{"name":{"ja":"大阪府立成人病センター","en":"Osaka Medical Center for Cancer and Cardiovascular Diseases"}}}],"researchProjects":[],"grants":[{"title":{"ja":"家族性及び同胞癌症例ゲノム解析による遺伝性癌原因遺伝子の同定とその応用","en":"Identification of causative genes for hereditary cancer by genome analyses of familial cancer cases and its application"},"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":["25430180"]},{"title":{"ja":"全遺伝子配列解析による遺伝性及び散発性稀少がん症例原因遺伝子の探索","en":"Searching causative genes of familial or sporadic rare tumors using whole gene sequencing"},"agency":{"ja":"公益財団法人大阪コミュニティ財団がん研究助成","en":"The Osaka Community Foundation"},"grantIds":null},{"title":{"ja":"患者ゲノム配列解析による遺伝性及び散発性稀少癌症例原因遺伝子異常の探索","en":"Searching causative genetic aberrations of familial or sporadic rare tumors by genome analyses of patients"},"agency":{"ja":"公益信託大阪癌研究者育成基金","en":"The Charitable Trust Osaka Cancer Research Foundation"},"grantIds":null},{"title":{"ja":"稀少癌同胞症例ゲノム解析による遺伝性癌原因遺伝子の探索","en":"Searching causative genes of familial cancers by genome analyses of sibling patients with rare cancer"},"agency":{"ja":"財団法人大阪難病研究財団医学研究助成","en":"The Osaka Medical Research Foundation for Intractable Diseases"},"grantIds":null}],"relatedPublications":[{"title":"Homozygous inactivation of CHEK2 is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs","doi":"https://doi.org/10.1101/mcs.a001032","datasets":["JGAD000057"]}],"datasets":["JGAD000057"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"中岡 博史","en":"Hirofumi Nakaoka"},"affiliation":{"ja":"腫瘍ゲノム研究部, 公益財団法人佐々木研究所","en":"Department of Cancer Genome Research, Sasaki Institute"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"肺がん遺伝子解析研究","en":"Genetic analysis of lung cancer"},"periodStart":"2022-08-17","periodEnd":"2026-07-23","datasets":["JGAD000057"]}]}