Japanese Society for Hereditary Tumors Guidance: Hereditary Cancer Syndromes With Multigene Panel Testing, 2025 Edition.

Genotype-driven rather than phenotype-driven testing: eligibility criteria for multigene panel testing and management strategies for 56 cancer susceptibility genes

In March 2025, the Japanese Society for Hereditary Tumors and a research programme of the Japanese Ministry of Health, Labour and Welfare (MHLW) published a guidance on hereditary cancer syndromes assessed by multigene panel testing (MGPT), 2025 edition, which this article summarises. Unlike conventional phenotype-based guidelines, this guidance promotes preemptive cancer medicine based on genotype. It sets standardised eligibility criteria for multigene panel testing in both cancer-affected and cancer-free individuals, to identify actionable germline pathogenic variants. It recommends gene-specific curation for variant interpretation and structured clinical practice systems for risk management, with management strategies for 56 cancer susceptibility genes.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Moving from phenotype-driven to genotype-driven testing is a genuine doctrinal choice, consistent with the spread of broad analyses. The abstract gives neither the list of 56 genes nor the eligibility criteria themselves, and describes no formal consensus method: the full text is essential before any comparison with French recommendations. Gene-specific curation points towards specialised variant interpretation, a central issue once testing extends to cancer-free individuals.

Analysis by Dr Thibaut Benquey