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

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

doi:10.18926/AMO/63908

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

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

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

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.

本文言語	英語
ページ（範囲）	479-483
ページ数	5
ジャーナル	Acta Medica Okayama
巻	76
号	4
DOI	https://doi.org/10.18926/AMO/63908
出版ステータス	出版済み - 2022
外部発表	はい

All Science Journal Classification (ASJC) codes

生化学、遺伝学、分子生物学一般

UN SDG

この成果は、次の持続可能な開発目標に貢献しています

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10.18926/AMO/63908

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title = "Liquid Biopsy Revealed HBOC Pedigree and Led to Medical Management Among the Relatives",

abstract = "A hereditary breast and ovarian cancer (HBOC) pedigree was detected via liquid biopsy, and cancer prevention was initiated for the patient{\textquoteright}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.",

author = "Chikako Ogawa and Akira Hirasawa and Reimi Sogawa and Kayoko Hasuoka and Shuta Tomida and Mashu Futagawa and Yusaku Urakawa and Mariko Kochi and Hideki Yamamoto and Keiichiro Nakamura and Hisashi Masuyama",

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AU - Ogawa, Chikako

AU - Hirasawa, Akira

AU - Sogawa, Reimi

AU - Hasuoka, Kayoko

AU - Tomida, Shuta

AU - Futagawa, Mashu

AU - Urakawa, Yusaku

AU - Kochi, Mariko

AU - Yamamoto, Hideki

AU - Nakamura, Keiichiro

AU - Masuyama, Hisashi

PY - 2022

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N2 - 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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Liquid Biopsy Revealed HBOC Pedigree and Led to Medical Management Among the Relatives

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All Science Journal Classification (ASJC) codes

UN SDG

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