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The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database

Journal of Human Genetics volume 66, pages 307–314 (2021)Cite this article

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Abstract

BRCA1/2 pathogenic variant prevalence in Japanese breast cancer is unclear. Here, we analyzed BRCA1/2 pathogenic variant prevalence with a particular focus on age factors, using the Japanese HBOC consortium database. All registered subjects were Japanese individuals who underwent BRCA1/2 genetic testing from January 1996 to July 2017 according to the Japanese HBOC consortium database. Cases were extracted and analyzed for each evaluation item. Overall BRCA1 and BRCA2 pathogenic variant prevalence was 11.2% and 9.0% in the cohort of 2366 proband patients, respectively. The age at onset of breast cancer for patients with BRCA1/2 pathogenic variants was significantly lower than that for patients without a BRCA1/2 pathogenic variant. In both BRCA1/2 patients, ages at onset were not statistically significantly different between two subtype groups (ER-positive vs. TNBC). We analyzed the BRCA1/2 pathogenic variant prevalence among age groups in patients with no family history of breast or ovarian cancer. In the TNBC group, the rate of genetic variants was more frequent among younger patients. Our results demonstrated that early breast cancer onset is associated with a BRCA1/2 pathogenic variant in the Japanese population. Younger TNBC patients were more likely to have a BRCA1/2 pathogenic variant irrespective of a family history of breast or ovarian cancer.

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Acknowledgements

Registration Committee, Japanese HBOC Consortium [Committee]: Seigo Nakamura (Showa University), Takayuki Enomoto (Niigata University), Tadashi Nomizu (Hoshi General Hospital), Akihiro Sakurai (Sapporo Medical University), Masayuki Sekine (Niigata University), Hiroyuki Nomura (Fujita Medical University), Megumi Ohkawa (St. Luke’s International Hospital), Junko Yotsumoto (International University of Health and Welfare), [Data center] Chie Watanabe (Sophia University), [Office] Shiro Yokoyama (Showa University). Participating Facilities of Nationwide registration projects: Showa Medical University Hospital, St. Lukes Hospital, Cancer Institute Hospital, Hoshi General Hospital, Shikoku Cancer Center, Hokkaido Cancer Center, Sapporo Medical Center, Niigata University Faculty of Medicine, Keio University, Kitano Hospital, Kochi University Faculty of Medicine, Tawara IVF Clinic, Kochi Medical Center, Nagoya University Hospital, St. Marianna University School of Medicine, Asahikawa Medical University, Aichi Cancer Center Hospital, Saku Medical Center, Tsukuba Medical University Hospital, Yokohama City University Hospital, Fujita Medical University Hospital, Ehime University Hospital, Gunma Prefectural Cancer Center, Nagasaki University Hospital, Shinshu University Hospital, Juntendo University Hospital, Kitazato University Hospital, Aichi Cancer Center Aichi Hospital, Okayama University Hospital, Saitama Medical University International Medical Center, Tokyo Medical Center, Tokyo Metropolitan Komagome Hospital, Japanese Red Cross Ishinomaki Hospital, Nagoya City University Hospital, Kawasaki Medical School Hospital, Yamanashi Prefectural Central Hospital, Nara Medical University Hospital, Kanagawa Cancer Center, Shiga Medical University, Shizuoka Cancer Center, Gifu University Hospital, Hiroshima Prefectural Hospital, Niigata Cancer Center Hospital, Japanese Red Cross Nagoya Daiichi Hospital, Tottori University Hospital, Kansai Rosai Hospital, Kokura Medical Center, Nippon Medical School Musashi Kosugi Hospital, Kansai Medical University Hospital, Sagara Hospital Breast Center, Chiba University Hospital, Ibaraki Prefectural Hospital, Fukui University Hospital, Hokkaido University Hospital, Saitama Medical Center, Osaka University, Japanese Red Cross Yamaguchi Hospital, Kyoto University Hospital, Konan Kosei Hospital, Japanese Red Cross Medical Center, Shonan Memorial Hospital, Shizuoka General Hospital, Hiroshima University Hospital, National Hospital Organization Kyoto Medical Center, Shiroyama Hospital, Saitama Cancer Center, National Hospital Organization Osaka National Hospital, Kitakyushu Municipal Medical Center, Iwate Medical University, and Tokuyama Central Hospital.

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Authors and Affiliations

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

    Maiko Okano, Tadashi Nomizu, Kazunoshin Tachibana, Miki Nagatsuka, Masami Matsuzaki & Naoto Katagata

  2. Department of Breast Surgery, Fukushima Medical University School of Medicine, Fukushima, Japan

    Maiko Okano, Kazunoshin Tachibana & Toru Ohtake

  3. Breast Center, Showa University, Tokyo, Japan

    Shiro Yokoyama & Seigo Nakamura

  4. Diagnostics and Therapeutics of Intractable Diseases, Graduate School of Medicine, Juntendo University, Tokyo, Japan

    Masami Arai

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Okano, M., Nomizu, T., Tachibana, K. et al. The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database. J Hum Genet 66, 307–314 (2021). https://doi.org/10.1038/s10038-020-00849-y

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