論文

国際誌
2019年11月28日

Germline and somatic mutations of homologous recombination-associated genes in Japanese ovarian cancer patients.

Scientific reports
  • Kentaro Sugino
  • Ryo Tamura
  • Hirofumi Nakaoka
  • Nozomi Yachida
  • Manako Yamaguchi
  • Yutaro Mori
  • Kaoru Yamawaki
  • Kazuaki Suda
  • Tatsuya Ishiguro
  • Sosuke Adachi
  • Masanori Isobe
  • Masayuki Yamaguchi
  • Katsunori Kashima
  • Teiichi Motoyama
  • Ituro Inoue
  • Kosuke Yoshihara
  • Takayuki Enomoto
  • 全て表示

9
1
開始ページ
17808
終了ページ
17808
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1038/s41598-019-54116-y

We explored the frequency of germline and somatic mutations in homologous recombination (HR)-associated genes in major histological types of ovarian cancer. We performed targeted sequencing to assess germline and somatic mutations of 16 HR-associated genes and 4 mismatch repair (MMR) genes among 207 ovarian cancer patients (50 high-grade serous carcinomas (HGSC), 99 clear cell carcinomas (CCC), 39 endometrioid carcinomas (EC), 13 mucinous carcinomas (MC), and 6 low-grade serous carcinomas (LGSC)). Germline or somatic mutations of HR-associated genes were detected in 44% of HGSC, 28% of CCC, 23% of EC, 16% of MC, and 17% of LGSC patients. The profile of HR-associated gene mutations was remarkably different among each histological type. Germline BRCA1/2 mutations were frequently detected in HGSC and were rarely observed in CCC, EC, and MC patients. ATM somatic mutation was more frequently detected in CCC (9%) and EC patients (18%) than in HGSC patients (4%). There was a positive correlation between MMR gene mutations and HR-associated gene mutations (p = 0.0072). Our findings might be useful in selection of ovarian cancer patients that should be treated with PARP inhibitors.

リンク情報
DOI
https://doi.org/10.1038/s41598-019-54116-y
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/31780705
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6882827
ID情報
  • DOI : 10.1038/s41598-019-54116-y
  • PubMed ID : 31780705
  • PubMed Central 記事ID : PMC6882827

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