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Prevalence and differentiation of hereditary breast and ovarian cancers in Japan

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Abstract

Background

We assembled needed data on the prevalence and characteristics of BRCA1/2 in Japan.

Materials and methods

Our study of BRCA1/2 collected data at eight institutions in Japan on 320 individuals with a strong family history of breast cancer, according to the NCCN guidelines, by the end of March 2012.

Results

Among 260 proband cases, 46 (17.7 %) were positive for BRCA1, and 35 (13.5 %) were BRCA2-positive. Therefore, the total pathological mutation rate was 30.7 %. Pathology data after breast surgery were obtained from 37 cases of BRCA1 mutation, 23 (62.2 %) of which were triple negative (TN). On the other hand, 29 cases (82.9 %) of BRCA2 mutations were Luminal type. The most prevalent BRCA1 mutation site was L63X, found in 10 families. L63X was reported previously by studies in Japan, and it may be a founder mutation. We found two cases of large deletion detected by multiplex ligation-dependent probe amplification. One was an entire deletion of exon 20 and the lacked exons 1–9. TN with a family history of ovarian cancer was 11/20 (55 %). TN under 40-year-old (y.o.) 15/23 (65.2 %) and TN with one or more breast cancers in family history 17/32 (53.1 %) showed higher incidences of BRCA1 mutation.

Conclusion

Hereditary breast and ovarian cancer (HBOC) may have nearly the same prevalence in Japan as in the US or Europe. If TN cases are taken into account, the ratio of BRCA1 is higher. L63X may be one of the founder mutations in Japan. A nationwide database of HBOC is important to develop risk models for BRCA1/2 carriers in Japan.

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Conflict of interest

Seigo Nakamura has no conflict of interest. Masato Takahashi has no conflict of interest. Mitsuhiro Tozaki has no conflict of interest. Takahiro Nakayama has no conflict of interest. Tadashi Nomizu has no conflict of interest. Yoshio Miki received $30,000/year as a royalty for Breast Cancer Gene U-2090 from the University of Utah. Yoshie Murakami has no conflict of interest. Daisuke Aoki has no conflict of interest. Takuji Iwase has no conflict of interest. Seiichiro Nishimura has no conflict of interest. Hideko Yamauchi has no conflict of interest. Shozo Ohsumi has no conflict of interest. Shinichi Baba has no conflict of interest. Tadao Shimizu has no conflict of interest.

Author information

Authors and Affiliations

  1. Division of Breast Surgical Oncology, Department of Surgery, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku, Tokyo, 142-8666, Japan

    Seigo Nakamura

  2. Department of Breast Surgery, Hokkaido Cancer Center, Sapporo, Japan

    Masato Takahashi

  3. Breast Center, Kameda Medical Center, Chiba, Japan

    Mitsuhiro Tozaki

  4. Department of Breast and Endocrine Surgery, Osaka Medical Center for Cancer and Cardiovascular Disease, Osaka, Japan

    Takahiro Nakayama

  5. Department of Surgery, Hoshi General Hospital, Fukushima, Japan

    Tadashi Nomizu

  6. Department of Genetic Diagnosis, The Cancer Institute Hospital of JFCR, Tokyo, Japan

    Yoshio Miki

  7. Department of Adult Health Nursing, Toho University, Tokyo, Japan

    Yoshie Murakami

  8. Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan

    Daisuke Aoki

  9. Breast Oncology Center, The Cancer Institute Hospital of Japanese Foundation of Cancer Research, Tokyo, Japan

    Takuji Iwase

  10. Department of Breast Surgery, Shizuoka Cancer Center, Shizuoka, Japan

    Seiichiro Nishimura

  11. Breast Surgical Department, St.Luke’s International Hospital, Tokyo, Japan

    Hideko Yamauchi

  12. Breast Oncology, Shikoku Cancer Center, Ehime, Japan

    Shozo Ohsumi

  13. Breast Surgery Department, Sagara Hospital, Kagoshima, Japan

    Shinichi Baba

  14. Department of Breast Surgery, Tokyo Women’s Medical University Medical Center East, Tokyo, Japan

    Tadao Shimizu

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  1. Seigo Nakamura
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  2. Masato Takahashi
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  3. Mitsuhiro Tozaki
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  14. Tadao Shimizu
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Corresponding author

Correspondence to Seigo Nakamura.

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Nakamura, S., Takahashi, M., Tozaki, M. et al. Prevalence and differentiation of hereditary breast and ovarian cancers in Japan. Breast Cancer 22, 462–468 (2015). https://doi.org/10.1007/s12282-013-0503-1

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  • DOI: https://doi.org/10.1007/s12282-013-0503-1

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