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Acta Med Okayama ; 76(4): 479-483, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-36123164

RESUMEN

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.


Asunto(s)
Ácidos Nucleicos Libres de Células , Neoplasias Ováricas , Proteína BRCA2/genética , Neoplasias de la Mama , Niño , Femenino , Humanos , Biopsia Líquida , Persona de Mediana Edad , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/tratamiento farmacológico , Neoplasias Ováricas/genética , Linaje , Inhibidores de Poli(ADP-Ribosa) Polimerasas
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