ヨツモト　ジュンコ   YOTSUMOTO Junko   四元　淳子    所属   埼玉医科大学  医学部 ゲノム医療科    職種   専任講師
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読あり
表題	Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
掲載誌名	正式名：Journal of human genetics 略　 称：J Hum Genet ISSNコード：1435232X/14345161
掲載区分	国外
巻・号・頁	63(4),447-457頁
著者・共著者	Arai Masami, Yokoyama Shiro, Watanabe Chie, Yoshida Reiko, Kita Mizuho, Okawa Megumi, Sakurai Akihiro, Sekine Masayuki, Yotsumoto Junko, Nomura Hiroyuki, Akama Yoshinori, Inuzuka Mayuko, Nomizu Tadashi, Enomoto Takayuki, Nakamura Seigo
発行年月	2018/04
概要	BACKGROUND: The Japanese HBOC Consortium analyzed trial data from 2015 to evaluate the characteristics of Japanese hereditary breast and ovarian cancer (HBOC) pedigrees. METHODS: We reviewed 830 Japanese pedigrees undergoing BRCA1/2 testing, including 127 BRCA1 and 115 BRCA2 mutation carriers. RESULTS: The mutation-positive rate was 19.7%. Compared to the US, Japan showed higher mutation rates in most categories, except male breast cancer. Among BRCA1 breast cancers, 75.8% were triple-negative. Contralateral breast cancer incidence was 0.99%/year. For risk-reducing surgeries (26 RRM, 62 RRSO), occult cancer frequencies were 7.1% and 3.2%, respectively, with no recurrence during follow-up. CONCLUSIONS: Japanese HBOC patients exhibit unique mutation profiles and high triple-negative rates. The registration system enables ongoing follow-up analyses in Japan.
DOI	10.1038/s10038-017-0355-1
PMID	29176636