論文

査読有り 国際誌
2008年10月

Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer.

Cancer science
  • Kokichi Sugano
  • Seigo Nakamura
  • Jiro Ando
  • Shin Takayama
  • Hiroyuki Kamata
  • Isao Sekiguchi
  • Megumi Ubukata
  • Tetsuro Kodama
  • Masami Arai
  • Fujio Kasumi
  • Yasuo Hirai
  • Tadashi Ikeda
  • Hiromitsu Jinno
  • Masaki Kitajima
  • Daisuke Aoki
  • Akira Hirasawa
  • Yuko Takeda
  • Kumiko Yazaki
  • Takashi Fukutomi
  • Takayuki Kinoshita
  • Ryuichiro Tsunematsu
  • Teruhiko Yoshida
  • Masako Izumi
  • Shino Umezawa
  • Hiroshi Yagata
  • Hiroko Komatsu
  • Naoko Arimori
  • Noriko Matoba
  • Nobuhisa Gondo
  • Shiro Yokoyama
  • Yoshio Miki
  • 全て表示

99
10
開始ページ
1967
終了ページ
76
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1111/j.1349-7006.2008.00944.x
出版者・発行元
WILEY-BLACKWELL

The prevalence of BRCA1/2 germline mutations in Japanese patients suspected to have hereditary breast/ovarian cancer was examined by a multi-institutional study, aiming at the clinical application of total sequencing analysis and validation of assay sensitivity in Japanese people using a cross-sectional approach based on genetic factors estimated from personal and family histories. One hundred and thirty-five subjects were referred to the genetic counseling clinics and enrolled in the study. Full sequencing analysis of the BRCA1/2 gene showed 28 types of deleterious mutations in 36 subjects (26.7%), including 13 types of BRCA1 mutations in 17 subjects (12.6%) and 15 types of BRCA2 mutations in 19 subjects (14.1%). Subjects were classified into five groups and 22 subgroups according to their personal and family history of breast and/or ovarian cancer, and the prevalence of deleterious mutations was compared with previously reported data in non-Ashkenazi individuals. Statistical analysis using the Mantel-Haenszel test for groups I through IV revealed that the prevalence of Japanese subjects was significantly higher than that of non-Ashkenazi individuals (P = 0.005, odds ratio 1.87, 95% confidence interval 1.22-2.88). Family history of the probands suffering from breast cancer indicated risk factors for the presence of deleterious mutations of BRCA1/2 as follows: (1) families with breast cancer before age 40 within second degree relatives (P = 0.0265, odds ratio 2.833, 95% confidence interval 1.165-7.136) and (2) families with bilateral breast cancer and/or ovarian cancer within second degree relatives (P = 0.0151, odds ratio 2.88, 95% confidence interval 1.25-6.64).

リンク情報
DOI
https://doi.org/10.1111/j.1349-7006.2008.00944.x
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/19016756
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000260333500013&DestApp=WOS_CPL
ID情報
  • DOI : 10.1111/j.1349-7006.2008.00944.x
  • ISSN : 1347-9032
  • PubMed ID : 19016756
  • Web of Science ID : WOS:000260333500013

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