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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)479-483
Number of pages5
JournalActa medica Okayama
Issue number4
Publication statusPublished - 2022


  • Brca 1
  • Cancer precision medicine
  • Germline findings
  • Hereditary breast and ovarian cancer (hboc)
  • Presumed germline pathogenic variants (pgpv)

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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