{Reference Type}: Case Reports
{Title}: Liquid Biopsy Revealed HBOC Pedigree and Led to Medical Management Among the Relatives.
{Author}: Ogawa C;Hirasawa A;Sogawa R;Hasuoka K;Tomida S;Futagawa M;Urakawa Y;Kochi M;Yamamoto H;Nakamura K;Masuyama H;
{Journal}: Acta Med Okayama
{Volume}: 76
{Issue}: 4
{Year}: Aug 2022
{Factor}: 0.744
{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.