Japanese Society for Hereditary Tumors Guidance: Hereditary Cancer Syndromes With Multigene Panel Testing, 2025 Edition
Reiko Yoshida, Akira Hirasawa, Issei Imoto, Tatsuro Yamaguchi, Kensuke Kumamoto, Momoko Araki, Arisa Ueki, Kenta Masuda, Yusaku Urakawa, Noriko Tanabe, Atsushi Watanabe, Makoto Hirata, Tomoyuki Aruga, Takeshi Kuwata, Yoshinaga Okugawa, Keika Kaneko, Hiroko Terui‐Kohbata, Megumi Matsumoto, Sayaka Ueno, Katsutoshi Oda, Hisako Ono, Akihiro Sakurai, Hirotaka Matsui, Gou Yamamoto, Hideki Yamamoto, Yasuko Yamamoto, Masachika Ikegami, Yusuke Ohkuma, Kazuhiko Shien, Shigenobu Suzuki, Shunsaku Takayanagi, Masahiko Tanabe, Hisashi Hasumi, Naohito Hatta, Hiroyoshi Hattori, Hiroyuki Matsubayashi, Wataru Yamagami, Masayoshi Yamada, Kazuyuki Oishi, Tomomi Oka, Shinya Oda, Yusuke Kobayashi, Kazuhiro Takekoshi, Takeshi Nakajima, Yoshiko Nakano, Yoshiko Nakayama, Fumiharu Miura, Yasuyuki Miyakura, Yoshiko Mori, Akiyo Yoshimura, Masato Yonamine, Kunitoshi Shigeyasu, Hiroko Fujita, Mashu Futagawa, Kouji Ohta, Junko Kawano, Tomoharu Tokutomi, Ayaka Sato, Takeshi Makabe, Tomoko Yoshihama, Miki Aitani, Kaori Kimura, Nabue Takaiso, Chikako Tomozawa, Yumie Hiraoka, Manami Matsukawa, Hideyuki IshidaABSTRACT
In March 2025, the Japanese Society for Hereditary Tumors and the Ministry of Health, Labour and Welfare (MHLW) Research on Promotion of Cancer Control Program Grant Number JPMH 23EA1037 published the “Japanese Society for Hereditary Tumors Guidance: Hereditary Cancer Syndromes with Multigene Panel Testing (MGPT), 2025 Edition.” Unlike conventional phenotype‐based guidelines, this guidance promotes preemptive cancer medicine based on genotype. The guidance establishes standardized criteria for MGPT eligibility, emphasizing its utility in both cancer‐affected and cancer‐free individuals to identify actionable germline pathogenic variants (GPVs). Key recommendations include the integration of gene‐specific curation for variant interpretation and the implementation of structured clinical practice systems for risk management. By providing evidence‐based management strategies for 56 cancer‐susceptibility genes, this guidance facilitates the shift toward genotype‐driven oncology. This digest assists healthcare providers in utilizing MGPT and supports shared decision‐making for patients and their relatives.