Skip to content
NBDC Human Database

No datasets in the cart.

Go to the cart

Due to system maintenance, the application system, application review by the Data Access Committee will be unavailable during the following period.
Schedule: October 5th (Mon), 2026, 9:00 - October 7th (Wed), 2026, 15:00 (JST)
We apologize for any inconvenience this may cause and appreciate your understanding.

We are currently receiving a large number of applications for data submission, and the review process is taking longer than usual.We sincerely apologize for the delay and kindly ask for your understanding. When submitting an application, we would greatly appreciate it if you could allow sufficient time for the processing.

Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0533-v1Release info

Latest

Research title

Comprehensive Genetic Analysis of Carcinogenesis in Hereditary Gastric Polyposis

Research overview

Aims
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
Whole exome sequencing, RNA sequencing
Participants/materials
7 GAPPS cases
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000985NGS (Exome, RNA-seq)
  • WES
  • RNA-seq
Controlled-access (Type I)2025-10-17

Data provider

Principal investigator
Chihiro Matsumoto
Affiliation
Department of Gastroenterological Surgery, Graduate School of Medical Sciences, Kumamoto University

Research projects

No research projects.

Grants

NameTitleProject number
Princess Takamatsu Cancer Research Fund
Molecular elucidation of the dysplasia-adenoma-adenocarcinoma sequence in gastric cancer
  • 21-25303
KAKENHI Grant-in-Aid for Scientific Research (C)
Elucidation of the carcinogenic mechanisms of hereditary gastric cancer and establishment of innovative therapeutic strategies
  • 24K10427
KAKENHI Grant-in-Aid for Scientific Research (C)
Development of a precise method for estimating the timing of mutations during carcinogenesis
  • 24K18481
Japanese Gastric Cancer Association
Comprehensive genomic analysis for molecular mechanism of carcinogenesis of hereditary gastric cancer
  • JGCA-032

Related publications

TitleDOIDataset ID
Genomic and transcriptomic landscape of carcinogenesis in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS)
https://doi.org/10.1073/pnas.2427133122 (opens in a new tab)

Controlled access users

No use of the controlled access data has been recorded.