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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

hum0295-v1Release info

Latest

Research title

Search for biomarkers for diagnosis, evaluation of therapeutic effect, and follow-up of skin tumors (prospective observational study)

Research overview

Aims
DNA extracted from tumor and normal tissue (blood or saliva) was collected from patients with skin tumors. Tumor was primary lesion only (9 cases), metastatic lesion only (5), or both (7). 21 patients with melanoma and 1 patient with sebaceous nevus were enrolled. 29 tumor and 21 normal tissues were analyzed. From the case with sebaceous nevus, DNA was extracted from three parts of a tumor (sebaceous nevus, trichoblastoma and poroma).
Methods
To detect tumor driver mutations, DNAs from tumor and non-tumor tissues were sequenced with a custom panel. Tumor DNA was extracted from patients' formalin-fixed paraffin-embedded sections. The panel contains 3,336 primer-pair for 95 gene regioins.
Participants/materials
98 patients with melanoma and one patient with sebaceous nevus were enrolled.
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000465NGS (Amplicon-seq)
  • RNA Amplicon-seq
Controlled-access (Type I)2024-11-05

Data provider

Principal investigator
Hisashi Uhara
Affiliation
Dermatology, Sapporo Medical University

Research projects

No research projects.

Grants

NameTitleProject number
KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas
Platform for Advanced Genome Science
  • 16H06279
KAKENHI Grant-in-Aid for Scientific Research (C)
Characterization of the intratumoral ecosystem in melanoma by single-cell RNA-seq analysis
  • 19K08752
KAKENHI Grant-in-Aid for Scientific Research (C)
Comprehensive analysis of genetic mutations and fusions in Japanese melanoma
  • 21K08304
KAKENHI Grant-in-Aid for Scientific Research (C)
Establishment of a personalized liquid biopsy method targeting multiple candidate mutated genes in melanoma
  • 22K08388
KAKENHI Grant-in-Aid for Scientific Research (C)
Preemptive medicine for Japanese melanoma through comprehensive analysis of tumor genome and circulating tumor cells
  • 24K11477

Related publications

TitleDOIDataset ID
Genetic analyses of a secondary poroma and trichoblastoma in a HRAS-mutated sebaceous nevus
https://doi.org/10.1111/1346-8138.15919 (opens in a new tab)
Genetic characteristics of cutaneous, acral, and mucosal melanoma in Japan.
https://doi.org/10.1002/cam4.70360 (opens in a new tab)

Controlled access users

No use of the controlled access data has been recorded.