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The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population

Journal of Human Genetics volume 69, pages 225–230 (2024)Cite this article

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A Correction to this article was published on 14 March 2024

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Abstract

Hereditary breast and ovarian cancer syndrome (HBOC) resulting from pathogenic variants of BRCA1 or BRCA2 is the most common and well-documented hereditary tumor. Although founder variants have been identified in population-based surveys in various countries, the types of variants are not uniform across races and regions. Recently, the Tohoku Medical Megabank Organization (ToMMo) released whole-genome sequence data including approximately 54,000 individuals from the general population of the Tohoku area in Japan. We analyzed these data and comprehensively identified the prevalence of BRCA1/2 pathogenic and truncating variants. We believe that an accurate understanding of the unique distribution and characteristics of pathogenic BRCA1/2 variants in Japan through this analysis will enable better surveillance and intervention for HBOC patients, not only in Japan but also worldwide.

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Author notes

  1. These authors contributed equally: Masashi Idogawa, Tasuku Mariya.

Authors and Affiliations

  1. Department of Medical Genome Sciences, Cancer Research Institute, Sapporo Medical University School of Medicine, Sapporo, Japan

    Masashi Idogawa & Takashi Tokino

  2. Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, Sapporo, Japan

    Masashi Idogawa & Hiroshi Nakase

  3. Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan

    Tasuku Mariya, Yumi Tanaka & Akihiro Sakurai

  4. Department of Obstetrics and Gynecology, Sapporo Medical University School of Medicine, Sapporo, Japan

    Tasuku Mariya & Tsuyoshi Saito

Authors
  1. Masashi Idogawa
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  2. Tasuku Mariya
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  3. Yumi Tanaka
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  4. Tsuyoshi Saito
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  5. Hiroshi Nakase
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  6. Takashi Tokino
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  7. Akihiro Sakurai
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Correspondence to Masashi Idogawa.

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The authors declare no competing interests.

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The original online version of this article was revised: In Table 2 of this article PDF, the data in the rows headed “c.7601_7602ins” and “c.7606_7607ins” were mistakenly listed as another rows. In Table 3, the layout has been changed to identify four tables respectively.

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Idogawa, M., Mariya, T., Tanaka, Y. et al. The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population. J Hum Genet 69, 225–230 (2024). https://doi.org/10.1038/s10038-024-01233-w

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  • DOI: https://doi.org/10.1038/s10038-024-01233-w

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