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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

hum0319-v1Release info

Latest

Research title

Development of diagnostic markers for prostate cancer using genetic polymorphisms / Identification of Rare Variants Involved in the Development of Prostate Cancer in Japanese

Research overview

Aims
To prospectively evaluate a prostate cancer risk prediction model combining multiple genetic polymorphisms using blood samples from patients who have high serum prostate-specific antigen (PSA) or abnormalities on rectal examination and undergo prostate biopsy for the definitive diagnosis of prostate cancer, and to evaluate its performance as a diagnostic marker for prostate cancer. In addition, to identify rare variants involved in the development of prostate cancer in Japanese by searching for rare variants.
Methods
DNA was extracted from peripheral blood samples taken prior to prostate biopsy. Targeted sequencing using multiplex PCR was performed to genotype 55 SNPs (16 SNPs used in the existing risk model and 39 additional SNPs) that have been reported to be associated with prostate cancer in Japan. We also performed targeted sequencing of all exonic regions of 8 genes (ATM, BRCA1, BRCA2, BRIP1, CHEK2, HOXB13, NBN, and PALB2) that have been reported to be associated with prostate cancer development.
Participants/materials
1,336 men with suspected prostate cancer scheduled for prostate biopsy
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000604NGS (Target Capture)
  • Targeted DNA sequencing
Controlled-access (Type I)2022-01-19

Data provider

Principal investigator
Shusuke Akamatsu
Affiliation
Department of Urology, Graduate School of Medicine, Kyoto University

Research projects

NameURL
Prostate Cancer Susceptibility Single Nucleotide Polymorphism (PCSSNP) study
N/A

Grants

NameTitleProject number
Tailor-Made Medical Treatment with the BioBank Japan Project (BBJ), Japan Agency for Medical Research and Development (AMED)
Research project for exploring genetic susceptibility to cancer and biomarkers for personalized cancer medicine
  • JP17km0506001
Externally Sponsored Research by AstraZeneca
Prevalence of germline and somatic DNA repair gene mutations in Japanese prostate cancer patients.
  • NCR-17-13159

Related publications

TitleDOIDataset ID
Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy
https://doi.org/10.1093/jncics/pkac001 (opens in a new tab)

Controlled access users

No use of the controlled access data has been recorded.