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

ABSTRACT: 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 Japan's national health insurance since August 2023, analyzes paired samples and reports GPVs in 40 genes. This study provides an initial characterization of GPVs based on clinical findings collected during the first year of GenMineTOP implementation. We analyzed 1356 solid tumor patients who underwent GenMineTOP testing in the Center for Cancer Genomics and Advanced Therapeutics (C-CAT)

SUBMITTER: Habano E 

PROVIDER: S-EPMC12689426 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature