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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)
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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

hum0355-v1Release info

Latest

Research title

Genomic analysis of genitourinary tumors by next generation sequencing

Research overview

Aims
To investigate genetic (variants, copy number alterations, structural abnormalities, etc.), epigenetic, and transcriptomic profiles of genitourinary tumors (adrenal, kidney, renal pelvis, retroperitoneal, ureter, ureteric duct, bladder, prostate, urethra, penis, testis, etc.). At the same time, by combining the profiles with clinical data (patient's background, treatment outcome, and prognosis), we clarify the relationship between the profiles and therapeutic efficacy, and molecular pathogenesis.
Methods
whole-genome sequencing (NGS), whole-exome sequencing (NGS), RNA-sequence (NGS), and digital multiplexed gene expression analysis using the NanoString nCounter system
Participants/materials
Ten patients with hereditary clear cell renal cell carcinoma (ccRCC) associated with Von Hippel-Lindau (VHL) disease
URL

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000663NGS (WGS, Exome, RNA-seq)
Digital multiplexed gene expression analysis
  • WGS
  • WES
  • RNA-seq
  • Direct Digital Count (nCounter)
Controlled-access (Type I)2023-06-21

Data provider

Principal investigator
Keisuke Kataoka
Affiliation
Division of Molecular Oncology, National Cancer Center Research Institute

Research projects

No research projects.

Grants

NameTitleProject number
Project for Promotion of Cancer Research and Therapeutic Evolution (P-PROMOTE), Japan Agency for Medical Research and Development (AMED)
Elucidation of inter-patient, inter-tumor, and intra-tumor heterogeneity of genetic and immune status
  • JP23ama221510

Related publications

TitleDOIDataset ID
Inter- and intra-tumor heterogeneity of genetic and immune profiles in inherited renal cell carcinoma
https://doi.org/10.1016/j.celrep.2023.112736 (opens in a new tab)

Controlled access users

Principal investigatorAffiliationCountry/RegionResearch titlePeriod of data useDataset ID
Eamonn MaherMaher Department of Medical Genetics, University of CambridgeUnited KingdomMolecular Pathology of Human Genetic Disease (HumGenDis) (https://medgen.medschl.cam.ac.uk/research/molecular-pathology-of-human-genetic-disease-humgendis-study/)2023-04-06 – 2024-07-20
samra turajlicThe Francis Crick InstituteUnited KingdomTracking evolution of hereditary renal cell carcinomas 2025-04-24 – 2027-09-01
Pascal SchlosserInstitute of Genetic Epidemiology, Medical Center - University of FreiburgGermanyDeregulation of mTOR signaling pathways and metabolic reprogramming in VHL-dependent clear cell renal cell carcinoma2025-10-10 – 2028-12-31