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Liquid Biopsy Revealed HBOC Pedigree and Led to Medical Management Among the Relatives

Authors :
Ogawa, Chikako
Hirasawa, Akira
Sogawa, Reimi
Hasuoka, Kayoko
Tomida, Shuta
Futagawa, Mashu
Urakawa, Yusaku
Kochi, Mariko
Yamamoto, Hideki
Nakamura, Keiichiro
Masuyama, Hisashi
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