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Acta Med Okayama ; 76(4): 479-483, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36123164

RESUMO

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.


Assuntos
Ácidos Nucleicos Livres , Neoplasias Ovarianas , Proteína BRCA2/genética , Neoplasias da Mama , Criança , Feminino , Humanos , Biópsia Líquida , Pessoa de Meia-Idade , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/genética , Linhagem , Inibidores de Poli(ADP-Ribose) Polimerases
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