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Since 2019, comprehensive genomic profiling (CGP) has been implemented in Japan under the national health insurance system, and the resulting data have been aggregated systematically at the Center for Cancer Genomics and Advanced Therapeutics (C-CAT). To date, genomic and clinical information has been collected from more than 100,000 patients with solid tumors, providing an invaluable nationwide real-world data resource. Among 105,940 patients, 4383 (4.1%) harbored pathogenic variants of BRCA1/2, most commonly in breast, prostate, pancreatic, and ovarian cancers. Comparison with an international dataset revealed Japan-specific hotspot mutations such as BRCA1 L63* and BRCA2 R2318*. Importantly, there was a marked change in treatment approaches for patients with BRCA1/2 pathogenic variants. Before CGP testing, cytotoxic chemotherapies predominated; however, after CGP testing, the main treatment was Olaparib, a PARP inhibitor. This change in approach reflects clinical adoption of synthetic lethality-based treatments. Combining large-scale CGP data with clinical information can provide critical insight into the implementation of precision cancer medicine in real-world practice.

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BRCA1/2 Pathogenic Variant-Based Precision Cancer Medicine: Insights Obtained from Real-World C-CAT Data

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  • 发表日期：

    2026年

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  • Takashi Kohno

摘要

Since 2019, comprehensive genomic profiling (CGP) has been implemented in Japan under the national health insurance system, and the resulting data have been aggregated systematically at the Center for Cancer Genomics and Advanced Therapeutics (C-CAT). To date, genomic and clinical information has been collected from more than 100,000 patients with solid tumors, providing an invaluable nationwide real-world data resource. Among 105,940 patients, 4383 (4.1%) harbored pathogenic variants of BRCA1/2, most commonly in breast, prostate, pancreatic, and ovarian cancers. Comparison with an international dataset revealed Japan-specific hotspot mutations such as BRCA1 L63* and BRCA2 R2318*. Importantly, there was a marked change in treatment approaches for patients with BRCA1/2 pathogenic variants. Before CGP testing, cytotoxic chemotherapies predominated; however, after CGP testing, the main treatment was Olaparib, a PARP inhibitor. This change in approach reflects clinical adoption of synthetic lethality-based treatments. Combining large-scale CGP data with clinical information can provide critical insight into the implementation of precision cancer medicine in real-world practice.