In recent years, insurance coverage of BRCA1/2 genetic testing has been expanding in Japan. As one of its projects, the Japanese organization of hereditary breast and ovarian cancer (JOHBOC) conducts a registry of hereditary breast and ovarian cancer (HBOC) for families. A database for HBOC is being established with the aim of describing the clinical and genetic characteristics and linking this to standard treatment by improving the medical treatment environment for the concerned patients and their inclusion in guidelines, and participation is being solicited from medical facilities throughout Japan. This chapter reports a summary of the 2022 data. A total of 134 facilities nationwide participated in this registration project. The enrollment of BRCA1/2 pathogenic variant carriers was 3610. More than 10% of these were unaffected BRCA1/2 pathogenic variant carriers. Furthermore, 439 patients undergoing risk-reducing mastectomy (RRM) and 831 patients undergoing risk-reducing salpingo-oophorectomy (RRSO) were enrolled. Since April 2020, surveillance, RRM, and RRSO for HBOC patients with a history of breast or ovarian cancer have been covered by insurance in Japan. Two years have passed since then, and the actual situation of HBOC care in Japan has gradually become clearer. However, HBOC care is not yet covered by insurance for unaffected BRCA1/2 pathogenic variant carriers. Nearly 400 unaffected BRCA1/2 pathogenic variant carriers have already been enrolled in this registry project. It is considered urgent to develop a system of medical care for unaffected BRCA1/2 pathogenic variant carriers.

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Updates to the Registration Data of the Japanese Organization of Hereditary Breast and Ovarian Cancers: Summary for 2022

  • Mayuko Inuzuka,
  • Takanori Ishida,
  • Seigo Nakamura

摘要

In recent years, insurance coverage of BRCA1/2 genetic testing has been expanding in Japan. As one of its projects, the Japanese organization of hereditary breast and ovarian cancer (JOHBOC) conducts a registry of hereditary breast and ovarian cancer (HBOC) for families. A database for HBOC is being established with the aim of describing the clinical and genetic characteristics and linking this to standard treatment by improving the medical treatment environment for the concerned patients and their inclusion in guidelines, and participation is being solicited from medical facilities throughout Japan. This chapter reports a summary of the 2022 data. A total of 134 facilities nationwide participated in this registration project. The enrollment of BRCA1/2 pathogenic variant carriers was 3610. More than 10% of these were unaffected BRCA1/2 pathogenic variant carriers. Furthermore, 439 patients undergoing risk-reducing mastectomy (RRM) and 831 patients undergoing risk-reducing salpingo-oophorectomy (RRSO) were enrolled. Since April 2020, surveillance, RRM, and RRSO for HBOC patients with a history of breast or ovarian cancer have been covered by insurance in Japan. Two years have passed since then, and the actual situation of HBOC care in Japan has gradually become clearer. However, HBOC care is not yet covered by insurance for unaffected BRCA1/2 pathogenic variant carriers. Nearly 400 unaffected BRCA1/2 pathogenic variant carriers have already been enrolled in this registry project. It is considered urgent to develop a system of medical care for unaffected BRCA1/2 pathogenic variant carriers.