Liquid Biopsy Revealed HBOC Pedigree and Led to Medical Management Among the Relatives

  • Chikako Ogawa
  • , Akira Hirasawa
  • , Reimi Sogawa
  • , Kayoko Hasuoka
  • , Shuta Tomida
  • , Mashu Futagawa
  • , Yusaku Urakawa
  • , Mariko Kochi
  • , Hideki Yamamoto
  • , Keiichiro Nakamura
  • , Hisashi Masuyama

研究成果: ジャーナルへの寄稿学術論文査読

抄録

A hereditary breast and ovarian cancer (HBOC) pedigree was detected via liquid biopsy, and cancer prevention was initiated for the patient’s daughter, after receiving a definitive result from BRCA genetic testing. A 48-yearold woman with ovarian cancer was administered precision medicine, which used cell-free DNA from plasma. The results revealed a pathogenic variant of BRCA1 as a presumed germline pathogenic mutation. We confirmed the germline pathological variant BRCA1 c.81-1G> A and suggested treatment with a PARP inhibitor. One of her three children had the variant, was diagnosed as an unaffected pathogenic variant carrier, and was advised to initiate surveillance.

本文言語英語
ページ(範囲)479-483
ページ数5
ジャーナルActa Medica Okayama
76
4
DOI
出版ステータス出版済み - 2022
外部発表はい

All Science Journal Classification (ASJC) codes

  • 生化学、遺伝学、分子生物学一般

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