Scholarlink

The content we presented at the Annual Meeting of the Japanese Organization of Hereditary Breast and Ovarian Cancer 2024 was based on an investigation into how many carriers of pathogenic BRCA1/2 variants (i.e., individuals with HBOC) are included in ToMMo-54KJPN, the standard Japanese genome reference panel. Remarkably, the frequency of individuals harboring pathogenic variants in either BRCA1 or BRCA2 reached 5.772 × 10−3, which was considerably higher than anticipated. Furthermore, by comparing the ranking of variant frequencies in this general population dataset with those observed in the cancer-based Japanese Organization of Hereditary Breast and Ovarian Cancer registry, we identified an intriguing relationship with the status of companion diagnostic test reimbursement under the Japanese national health insurance system. In this manuscript, we present a full account of findings, along with additional analyses including the subsequently released ToMMo-60KJPN dataset.

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Prevalence and Characteristics of Pathogenic Variants in BRCA1/2 Genes in the Japanese Population

  • 章节

  • 发表日期：

    2026年

查看全文
  • Tasuku Mariya,
  • Masashi Idogawa,
  • Tsuyoshi Saito,
  • Hiroshi Nakase,
  • Akihiro Sakurai

摘要

The content we presented at the Annual Meeting of the Japanese Organization of Hereditary Breast and Ovarian Cancer 2024 was based on an investigation into how many carriers of pathogenic BRCA1/2 variants (i.e., individuals with HBOC) are included in ToMMo-54KJPN, the standard Japanese genome reference panel. Remarkably, the frequency of individuals harboring pathogenic variants in either BRCA1 or BRCA2 reached 5.772 × 10−3, which was considerably higher than anticipated. Furthermore, by comparing the ranking of variant frequencies in this general population dataset with those observed in the cancer-based Japanese Organization of Hereditary Breast and Ovarian Cancer registry, we identified an intriguing relationship with the status of companion diagnostic test reimbursement under the Japanese national health insurance system. In this manuscript, we present a full account of findings, along with additional analyses including the subsequently released ToMMo-60KJPN dataset.