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NBDC Research ID:hum0295-v1
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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.

Targets: 98 patients with melanoma and one patient with sebaceous nevus were enrolled.

Datasets

Dataset ID
Access type
Type of data
Release date
JGAD000465Controlled-access (Type I)NGS (Amplicon-seq)2024-11-05

Data provider

    Principal investigator
    Hisashi Uhara
    Name
    Dermatology, Sapporo Medical University

Research projects

Name
URL
No data

Grants

Name
Title
Project number
KAKENHI Grant-in-Aid for Scientific Research on Innovative AreasPlatform 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

Title
DOI
Dataset ID
Genetic analyses of a secondary poroma and trichoblastoma in a HRAS-mutated sebaceous nevushttps://doi.org/10.1111/1346-8138.15919
Genetic characteristics of cutaneous, acral, and mucosal melanoma in Japan.https://doi.org/10.1002/cam4.70360

Controlled access users

Principal Investigator
Affiliation
Country/Region
Research title
Period of data use
Dataset ID
No data