論文

査読有り 国際誌
2018年4月

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.

Journal of human genetics
  • Masami Arai
  • Shiro Yokoyama
  • Chie Watanabe
  • Reiko Yoshida
  • Mizuho Kita
  • Megumi Okawa
  • Akihiro Sakurai
  • Masayuki Sekine
  • Junko Yotsumoto
  • Hiroyuki Nomura
  • Yoshinori Akama
  • Mayuko Inuzuka
  • Tadashi Nomizu
  • Takayuki Enomoto
  • Seigo Nakamura
  • 全て表示

63
4
開始ページ
447
終了ページ
457
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1038/s10038-017-0355-1

The hereditary breast and ovarian cancer (HBOC) registration system of Japan was established by the Japanese HBOC Consortium. The first trial was registered in 2015 in four institutions to which some registration committee members belonged. We analyzed the information of 830 Japanese pedigrees, who underwent BRCA1/2 genetic testing, including mutation carriers with BRCA1 (N = 127) and BRCA2 (N = 115), and their families. The mutation-positive rate was 19.7%. Variants of uncertain significance were found in 6.5% of all individuals subjected to genetic testing for BRCA1/2. Compared to the United States, Japan had a higher mutation-positive rate in most categories, except for the groups with male breast cancer. Among the intrinsic subtypes of BRCA1-associated breast cancers, 75.8% were triple-negative. The incidence rate of contralateral breast cancer in BRCA1/2 mutation carriers was 0.99%/year. Among 240 mutation carriers, 26 and 62 patients underwent risk-reducing mastectomy (RRM) and risk-reducing salpingo-oophorectomy (RRSO), respectively; the respective frequencies of occult cancer were 7.1 and 3.2%. Metachronous breast cancer after RRM or peritoneal cancer after RRSO was not observed during the follow-up period. The nationwide registration system began last year and the system enables follow-up analysis in Japan.

リンク情報
DOI
https://doi.org/10.1038/s10038-017-0355-1
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/29176636
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8716335
ID情報
  • DOI : 10.1038/s10038-017-0355-1
  • PubMed ID : 29176636
  • PubMed Central 記事ID : PMC8716335

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