Abstract
In Japan, individuals who underwent BRCA genetic testing were first registered in 2015 under a registry project by the Japanese Hereditary Breast and Ovarian Cancer Consortium. In 2019, the Japanese Organization of Hereditary Breast and Ovarian Cancer (JOHBOC) became the parent organization of this nationwide effort, and the data center was transferred to the National Clinical Database. BRCA-related data, namely, cancer family history including second-degree relatives; clinicopathological characteristics of breast, ovarian, and other cancers; BRCA sequencing results; and risk-reducing surgeries, are registered and are summarized and released annually in August. Data collected from cancer screenings performed in non-cancer diagnosed BRCA mutation carriers are also included in the database. By August 2020, 7780 registered individuals underwent the BRCA test across 93 medical institutions nationwide (index cases), among whom 726, 645, and 7 were identified as BRCA1, BRCA2, and BRCA1 + BRCA2 mutation-positive, respectively, which represented a twofold higher registered BRCA mutation carriers since 2019. In addition to companion diagnostics and confirmatory secondary cancer assessment, BRCA testing is covered under the national health insurance since 2020, which has contributed for the recent marked increase in BRCA testing frequency with diverse purposes. In the future, cooperation between the JOHBOC registry and foreign international databases will be explored.
Registration Committee of the JOHBOC
[Committee (other members)]: Seigo Nakamura (Showa University), Takayuki Enomoto (Niigata University Graduate School of Medical and Dental Sciences), Tadashi Nomizu (Hoshi General Hospital), Akihiro Sakurai (Sapporo Medical University), Masayuki Sekine (Niigata University Graduate School of Medical and Dental Sciences), Hiroyuki Nomura (Fujita Health University), Megumi Okawa (St. Luke’s International Hospital), Junko Yotsumoto (Showa University)
[Data center] Chie Watanabe (Showa University)
[NCD] Hiraku Kumamaru (University of Tokyo), Miyata Hiroaki (University of Tokyo)
[Office] Miyuki Shimoda (Showa University), Shiro Yokoyama (Showa University)
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References
Iwama T, Mishima Y. The polyposis committee of the Japanese research Society for Cancer of the colon and rectum. Gann Monogr Cancer Res. 1995;43:69–80.
The Research Group in Health and Labor, Sciences Research Grant. Research on elucidation of clinical and genetic characteristics of HBOC in Japan, and on improvement of their outcome using genetic information. In: Guidebook for Diagnosis and Treatment of hereditary Breast and Ovarian Cancer Syndrome 2017. Tokyo: Kanehara Co. Ltd.; 2017. p. 7–20.
Arai M, Yokoyama S, Watanabe C, Yoshida R, Kita M, Okawa M, et al. Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan. J Hum Genet. 2018;63:447–57. https://doi.org/10.1038/s10038-017-0355-1.
Nakamura S, Takahashi M, Tozaki M, Nakayama T, Nomizu T, Miki Y, et al. Prevalence and differentiation of hereditary breast and ovarian cancers in Japan. Breast Cancer. 2015;22:462–8. https://doi.org/10.1007/s12282-013-0503-1.
The Japanese HBOC Consortium.. http://hboc.jp/summary/index.html (2011). Accessed 31 January 2021.
Japan Hereditary Breast Cancer Ovarian Cancer Comprehensive Medical Care System Organization. http://johboc.jp. Accessed 31 January 2021.
Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol. 2002;20:1480–90. https://doi.org/10.1200/JCO.2002.20.6.1480.
Nagata H, Sekine M, Tsuji S, Hirai Y, Fujimoto S, Hatae M, et al. Haplotypes of BRCA1 mutation alleles in Japanese ovarian and breast-ovarian cancer families: a novel method for detecting BRCA1 associated ovarian cancer. Acta Med Biol. 2002;50:33–42.
National Center for Biotechnology Information, U.S. national library of medicine: clinvar aggregates information about genomic variation and its relationship to human health. https://www.ncbi.nlm.nih.gov/clinvar. Accessed 29 January 2021.
Yoshimura A, Yokoyama S, Iwata H, Takaiso N, Nomizu T, Arai M, et al. Incidence of contralateral and ipsilateral breast cancers and prognosis in BRCA1/2 pathogenic variant carriers based on the Japanese HBOC consortium registration. J Hum Genet. 2020; https://doi.org/10.1038/s10038-020-00850-5.
Okano M, Nomizu T, Tachibana K, Nagatsuka M, Matsuzaki M, Katagata N, et al. The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database. J Hum Genet. 2021;66:307–14. https://doi.org/10.1038/s10038-020-00849-y.
Inuzuka M, Watanabe C, Yokoyama S, Kuwayama T, Akashi-Tanaka S, Arai M, et al. A retrospective analysis of the relationship between the result of BRCA1/2 genetic testing and surgical method selection in Japan. Clin Breast Cancer. 2021;21:e48–52. https://doi.org/10.1016/j.clbc.2020.08.004.
Tung NM, Boughey JC, Pierce LJ, Robson ME, Bedrosian I, Dietz JR, et al. Management of hereditary breast cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology guideline. J Clin Oncol. 2020;38:2080–106. https://doi.org/10.1200/JCO.20.00299.
Yamauchi H, Okawa M, Yokoyama S, Nakagawa C, Yoshida R, Suzuki K, et al. High rate of occult cancer found in prophylactic mastectomy specimens despite thorough presurgical assessment with MRI and ultrasound: findings from the hereditary breast and ovarian cancer registration 2016 in Japan. Breast Cancer Res Treat. 2018;172:679–87. https://doi.org/10.1007/s10549-018-4953-1.
Yoshida R, Watanabe C, Yokoyama S, Inuzuka M, Yotsumoto J, Arai M, et al. Analysis of clinical characteristics of breast cancer patients with the Japanese founder mutation BRCA1 L63X. Oncotarget. 2019;10:3276–84. https://doi.org/10.18632/oncotarget.26852.
Mitamura T, Sekine M, Arai M, Shibata Y, Kato M, Yokoyama S, et al. Risk factors for lymph node metastasis of ovarian, fallopian tube and primary peritoneal cancer in hereditary breast and ovarian cancer syndrome. Jpn J Clin Oncol. 2020;50:1380–5. https://doi.org/10.1093/jjco/hyaa124.
Nomura H, Sekine M, Yokoyama S, Arai M, Enomoto T, Takeshima N, et al. Clinical background and outcomes of risk-reducing salpingo-oophorectomy for hereditary breast and ovarian cancers in Japan. Int J Clin Oncol. 2019;24:1105–10. https://doi.org/10.1007/s10147-019-01456-4.
CIMBA–Consortium of Investigators of Modifiers of BRCA1/2: Centre for Cancer Genetic Epidemiology.. http://cimba.ccge.medschl.cam.ac.uk (2021). Accessed 31 January 2021.
Acknowledgments
We express our sincerest appreciation to the dedicated staff within the 69 participating medical institutions for their cooperation in data entry to the nationwide registry project (2018):
Showa Medical University Hospital, St. Luke’s International 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, Kitasato 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, Tokuyama Central Hospital (69 institutes)
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Arai, M., The Registration Committee of the Japanese Organization of Hereditary Breast and Ovarian Cancer (JOHBOC). (2021). Hereditary Breast and Ovarian Cancer (HBOC) Database in Japan. In: Nakamura, S., Aoki, D., Miki, Y. (eds) Hereditary Breast and Ovarian Cancer . Springer, Singapore. https://doi.org/10.1007/978-981-16-4521-1_16
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DOI: https://doi.org/10.1007/978-981-16-4521-1_16
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