Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in Japan.

doi:10.1038/s10038-025-01389-z

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Article

Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in Japan.

Journal of human genetics - 1 Jan 2026

Habano Eri, Ogawa Miho, Watanabe Kousuke, Akiyama Nana, Chang Hyangri, Ka Mirei, Shinozaki-Ushiku Aya, Tanabe Masahiko, Akahori Masakazu, Ichijo Toshimitsu, Tsutsumi Shuichi, Tatsuno Kenji, Aburatani Hiroyuki, Kage Hidenori, Oda Katsutoshi

Abstract excerpt

Comprehensive genomic profiling (CGP) expands treatment options for solid tumor patients and identifies hereditary cancers. However, in Japan, confirmatory tests have been conducted in only 31.6% of patients with presumed germline pathogenic variants (GPVs) detected through tumor-only testing. Paired tumor-normal analysis enables differentiation between somatic and germline variants. GenMineTOP, covered by...

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Topics

Humans
Male
Japan
Female
Neoplasms
Germ-Line Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Middle Aged

Aged

Genetic Testing

Adult

Genomics

Genetic Predisposition to Disease

Aged, 80 and over

Child

Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 40926019
DOI: 10.1038/s10038-025-01389-z
PMCID: PMC12689426

Genes

ATM
BRCA1
BRCA2
BRIP1
CAT
PALB2
RAD51C
RAD51D

Provenance

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