論文

査読有り 招待有り 国際誌
2017年12月22日

Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.

Oncotarget
  • Akira Hirasawa
  • ,
  • Issei Imoto
  • ,
  • Takuya Naruto
  • ,
  • Tomoko Akahane
  • ,
  • Wataru Yamagami
  • ,
  • Hiroyuki Nomura
  • ,
  • Kiyoshi Masuda
  • ,
  • Nobuyuki Susumu
  • ,
  • Hitoshi Tsuda
  • ,
  • Daisuke Aoki

8
68
開始ページ
112258
終了ページ
112267
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.18632/oncotarget.22733
出版者・発行元
(in press)

Pathogenic germline BRCA1, BRCA2 (BRCA1/2), and several other gene variants predispose women to primary ovarian, fallopian tube, and peritoneal carcinoma (OC), although variant frequency and relevance information is scarce in Japanese women with OC. Using targeted panel sequencing, we screened 230 unselected Japanese women with OC from our hospital-based cohort for pathogenic germline variants in 75 or 79 OC-associated genes. Pathogenic variants of 11 genes were identified in 41 (17.8%) women: 19 (8.3%; BRCA1), 8 (3.5%; BRCA2), 6 (2.6%; mismatch repair genes), 3 (1.3%; RAD51D), 2 (0.9%; ATM), 1 (0.4%; MRE11A), 1 (FANCC), and 1 (GABRA6). Carriers of BRCA1/2 or any other tested gene pathogenic variants were more likely to be diagnosed younger, have first or second-degree relatives with OC, and have OC classified as high-grade serous carcinoma (HGSC). After adjustment for these variables, all 3 features were independent predictive factors for pathogenic variants in any tested genes whereas only the latter two remained for variants in BRCA1/2. Our data indicate similar variant prevalence in Japanese patients with OC and other ethnic groups and suggest that HGSC and OC family history may facilitate genetic predisposition prediction in Japanese patients with OC and referring high-risk patients for genetic counseling and testing.

リンク情報
DOI
https://doi.org/10.18632/oncotarget.22733
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/29348823
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762508
ID情報
  • DOI : 10.18632/oncotarget.22733
  • PubMed ID : 29348823
  • PubMed Central 記事ID : PMC5762508

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