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

Acta Med Okayama. 2022 Aug;76(4):479-483. doi: 10.18926/AMO/63908.

Abstract

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.

Keywords: BRCA 1; cancer precision medicine; germline findings; hereditary breast and ovarian cancer (HBOC); presumed germline pathogenic variants (PGPV).

Publication types

  • Case Reports

MeSH terms

  • BRCA2 Protein / genetics
  • Breast Neoplasms
  • Cell-Free Nucleic Acids*
  • Child
  • Female
  • Humans
  • Liquid Biopsy
  • Middle Aged
  • Ovarian Neoplasms* / diagnosis
  • Ovarian Neoplasms* / drug therapy
  • Ovarian Neoplasms* / genetics
  • Pedigree
  • Poly(ADP-ribose) Polymerase Inhibitors

Substances

  • BRCA2 Protein
  • Cell-Free Nucleic Acids
  • Poly(ADP-ribose) Polymerase Inhibitors

Supplementary concepts

  • Breast Cancer, Familial