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.
Original language | English |
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Pages (from-to) | 479-483 |
Number of pages | 5 |
Journal | Acta Medica Okayama |
Volume | 76 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2022 |
Externally published | Yes |
All Science Journal Classification (ASJC) codes
- General Biochemistry,Genetics and Molecular Biology