{"id":"hum0533","version":1,"url":"https://humandbs.dbcls.jp/research/hum0533/v1","datePublished":"2025-10-17","versions":[{"version":1,"datePublished":"2025-10-17"}],"title":{"ja":"遺伝性胃ポリポーシスの発癌に関する網羅的遺伝子解析","en":"Comprehensive Genetic Analysis of Carcinogenesis in Hereditary Gastric Polyposis"},"summary":{"aims":{"ja":"近年、胃噴門部に限局したポリポーシスががん化をきたす常染色体優性遺伝の疾患として、GAPPS（gastric adenocarcinoma and proximal polyposis of the stomach）が報告された。その後、GAPPSの原因遺伝子としてAPC promoter 1Bの生殖細胞系列変異が報告されたが、その発がんにおける分子生物学的メカニズムは全く解明されていない。そこで、正常粘膜から胃底腺ポリープ（fundic gland polyps: FGPs）を経てがん化をきたす進化的プロセスを明らかにするため、それぞれの領域から複数の検体を採取し、それらを対象と下全エクソームシーケンスおよびRNAシーケンスを実施し、包括的な変異解析およびトランスクリプトーム解析を行うことで、GAPPSの生物学的特性に関する新たな知見を探索する。","en":"In recent years, gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), an autosomal dominant syndrome with polyp formation in the gastric cardia progressing to carcinoma, has been reported. Germline mutations in APC promoter 1B were identified as its cause, yet the molecular mechanisms of carcinogenesis remain unclear. To elucidate the progression from normal mucosa to fundic gland polyps (FGPs) and carcinoma, we collected multiple samples from each lesion and performed whole exome sequencing and RNA sequencing. Comprehensive mutational and transcriptomic analyses provided novel insights into GAPPS biology."},"methods":{"ja":"全エクソームシーケンスおよびRNAシーケンス","en":"Whole exome sequencing, RNA sequencing"},"targets":{"ja":"GAPPS 7症例","en":"7 GAPPS cases"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing and expression profiling"},"targets":{"ja":"GAPPS：7症例\n（日本人）","en":"GAPPS: 7 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq）","en":"NGS\n(Exome, RNA-seq)"}},"releaseNote":{"ja":"GAPPS 7症例の腫瘍組織および非腫瘍組織から抽出したDNA/RNAを用いたwhole exome sequencingおよびRNA sequencing解析データをbam、bai、csvファイルにて提供する。","en":"DNA/RNA extracted from tumor tissues or non-tumor tissues from 7 GAPPS patients were used for the whole exome sequencing and RNA sequencing analyses. Bam, bai and csv files are provided."},"dataProviders":[{"name":{"ja":"松本 千尋","en":"Chihiro Matsumoto"},"organization":{"name":{"ja":"熊本大学大学院生命科学研究部 消化器外科学","en":"Department of Gastroenterological Surgery, Graduate School of Medical Sciences, Kumamoto University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"胃癌におけるdysplasia-adenoma-adenocarcinoma sequenceの分子生物学的解明","en":"Molecular elucidation of the dysplasia-adenoma-adenocarcinoma sequence in gastric cancer"},"agency":{"ja":"公益財団法人 高松宮妃癌研究基金","en":"Princess Takamatsu Cancer Research Fund"},"grantIds":["21-25303"]},{"title":{"ja":"遺伝性胃癌臨床検体を用いた上部胃癌発癌メカニズムの解明と革新的治療法の確立","en":"Elucidation of the carcinogenic mechanisms of hereditary gastric cancer and establishment of innovative therapeutic strategies"},"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":["24K10427"]},{"title":{"ja":"発がん過程における正確な変異タイミング推定法の開発","en":"Development of a precise method for estimating the timing of mutations during carcinogenesis"},"agency":{"ja":"科学研究費助成事業 若手研究","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["24K18481"]},{"title":{"ja":"遺伝性胃癌臨床検体を用いた網羅的ゲノム解析による新たな上部胃癌の分子生物学的発癌メカニズムの解明","en":"Comprehensive genomic analysis for molecular mechanism of carcinogenesis of hereditary gastric cancer"},"agency":{"ja":"一般社団法人 日本胃癌学会","en":"Japanese Gastric Cancer Association"},"grantIds":["JGCA-032"]}],"relatedPublications":[{"title":"Genomic and transcriptomic landscape of carcinogenesis in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS)","doi":"https://doi.org/10.1073/pnas.2427133122","datasets":["JGAD000985"]}],"datasets":["JGAD000985"],"controlledAccessUsers":[]}