論文

査読有り
2022年12月

Handling of Germline Findings in Clinical Comprehensive Cancer Genomic Profiling.

Acta medica Okayama
  • Mika Okazawa-Sakai
  • Yasuko Yamamoto
  • Mashu Futagawa
  • Miki Okamura
  • Satoko Miyawaki
  • Tomohiro Nishina
  • Kazuhiro Takehara
  • Toshiyuki Kozuki
  • Shuta Tomida
  • Ichinosuke Hyodo
  • Shozo Ohsumi
  • Akira Hirasawa
  • 全て表示

76
6
開始ページ
673
終了ページ
678
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.18926/AMO/64117

Patients found to have presumed germline pathogenic variants (PGPVs) during comprehensive genomic profiling (CGP) require genetic counseling (GC) referrals. We retrospectively investigated the outcomes of patients with PGPVs. Among 159 patients who underwent CGP, we recommended GC for the 16 patients with PGPVs (3 with [FG group] and 13 without [G Group] a family/personal history of hereditary cancer) as well as for the 8 patients with no PGPVs, but a history (F group); 2 (67%), 5 (38%), and 3 (38%) patients received GC in the FG, G, and F groups, respectively. Germline testing results were positive in 1 and 2 patients of the FG and G groups, respectively. Among the patients recommended for GC, 58% did not receive GC due to lack of interest, poor performance status, or death. CGP contributes to the identification of germline variants in patients without a history of hereditary cancer. However, the proportion of patients who undergo GC should be improved.

リンク情報
DOI
https://doi.org/10.18926/AMO/64117
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/36549769
ID情報
  • DOI : 10.18926/AMO/64117
  • PubMed ID : 36549769

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