論文

国際誌
2020年9月

Association of gBRCA1/2 mutation locations with ovarian cancer risk in Japanese patients from the CHARLOTTE study.

Cancer science
  • Kosuke Yoshihara
  • Takayuki Enomoto
  • Daisuke Aoki
  • Yoh Watanabe
  • Junzo Kigawa
  • Nobuhiro Takeshima
  • Hyoe Inomata
  • Kana Hattori
  • Masahisa Jinushi
  • Hitoshi Tsuda
  • Toru Sugiyama
  • 全て表示

111
9
開始ページ
3350
終了ページ
3358
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1111/cas.14513

Whether germline (g) breast cancer susceptibility gene (BRCA) mutations are located within or outside the ovarian cancer cluster region (OCCR) (1380-4062 bp for gBRCA1, and between 3249-5681 bp and 6645-7471 bp for gBRCA2) may influence risk variations for ovarian cancers. This ad hoc analysis of the CHARLOTTE epidemiological study in Japan assessed the distribution of gBRCA1/2 mutations in patients with newly diagnosed ovarian cancer, and investigated an association between gBRCA1/2 mutation locations and ovarian cancer risk. Differences in patient background and clinical characteristics in subgroups stratified by gBRCA1/2 mutation locations were also evaluated. We analyzed the data of 93 patients (14.7%) from the CHARLOTTE study who were positive for gBRCA1/2 mutations. After excluding 16 cases with L63X founder mutation, 28 (65.1%) of gBRCA1 mutations were within the OCCR. Of 30 gBRCA2 mutations, 15 (50.0%) were within the OCCR. Of 27 patients (one patient excluded for unknown family history) with gBRCA1 mutations located in the OCCR, 11 (40.7%) had a family history of ovarian cancer; the proportion of patients with a family history of ovarian cancer and gBRCA1 mutations outside the OCCR was lower (13.3%). Sixty percent of patients with gBRCA1 mutations outside the OCCR had a family history of breast cancer; the proportion of patients with a family history of breast cancer and gBRCA1 mutations within the OCCR was relatively lower (33.3%). Understanding the mutation locations may contribute to more accurate risk assessments of susceptible individuals and early detection of ovarian cancer among gBRCA mutation carriers.

リンク情報
DOI
https://doi.org/10.1111/cas.14513
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/32495382
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469841
ID情報
  • DOI : 10.1111/cas.14513
  • PubMed ID : 32495382
  • PubMed Central 記事ID : PMC7469841

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