| ID | 63908 |
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| Author |
Ogawa, Chikako
Department of Obstetrics and Gynecology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Hirasawa, Akira
Department of Clinical Genomic Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Sogawa, Reimi
Department of Clinical Genetics and Genomic Medicine, Okayama University Hospital
Hasuoka, Kayoko
Department of Nursing, Okayama University Hospital
Tomida, Shuta
Department of Center for Comprehensive Genomic Medicine, Okayama University Hospital Biobank, Okayama University Hospital
Futagawa, Mashu
Department of Clinical Genetics and Genomic Medicine, Okayama University Hospital
Urakawa, Yusaku
Department of Clinical Genomic Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Kochi, Mariko
Department of Clinical Genetics and Genomic Medicine, Okayama University Hospital
Yamamoto, Hideki
Department of Clinical Genomic Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Nakamura, Keiichiro
Department of Obstetrics and Gynecology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Masuyama, Hisashi
Department of Obstetrics and Gynecology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
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| 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.
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| Keywords | hereditary breast and ovarian cancer (HBOC)
BRCA 1
presumed germline pathogenic variants (PGPV)
germline findings
cancer precision medicine
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| Amo Type | Case Report
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| Publication Title |
Acta Medica Okayama
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| Published Date | 2022-08
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| Volume | volume76
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| Issue | issue4
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| Publisher | Okayama University Medical School
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| Start Page | 479
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| End Page | 483
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| ISSN | 0386-300X
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| NCID | AA00508441
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| Content Type |
Journal Article
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| language |
English
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| Copyright Holders | Copyright Ⓒ 2022 by Okayama University Medical School
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| File Version | publisher
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| Refereed |
True
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| PubMed ID | |
| Web of Science KeyUT |
