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76_4_479.pdf 2.02 MB
著者
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
抄録
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.
キーワード
hereditary breast and ovarian cancer (HBOC)
BRCA 1
presumed germline pathogenic variants (PGPV)
germline findings
cancer precision medicine
Amo Type
Case Report
出版物タイトル
Acta Medica Okayama
発行日
2022-08
76巻
4号
出版者
Okayama University Medical School
開始ページ
479
終了ページ
483
ISSN
0386-300X
NCID
AA00508441
資料タイプ
学術雑誌論文
言語
英語
論文のバージョン
publisher
査読
有り
PubMed ID
Web of Science KeyUT