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Liquid Biopsy Revealed HBOC Pedigree and Led to Medical Management Among the Relatives
- Source :
- Acta Medica Okayama. 76(4):479-483
- Publication Year :
- 2022
- Publisher :
- Okayama University Medical School, 2022.
-
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.
Details
- Language :
- English
- ISSN :
- 0386300X
- Volume :
- 76
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Acta Medica Okayama
- Accession number :
- edsair.jairo.........7f9343a054b775287192334a427c83d7