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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	479-483
Number of pages	5
Journal	Acta medica Okayama
Volume	76
Issue number	4
DOIs	https://doi.org/10.18926/AMO/63908
Publication status	Published - 2022

Keywords

Brca 1
Cancer precision medicine
Germline findings
Hereditary breast and ovarian cancer (hboc)
Presumed germline pathogenic variants (pgpv)

ASJC Scopus subject areas

Biochemistry, Genetics and Molecular Biology(all)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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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.",

keywords = "Brca 1, Cancer precision medicine, Germline findings, Hereditary breast and ovarian cancer (hboc), Presumed germline pathogenic variants (pgpv)",

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",

note = "Funding Information: Acknowledgments.　This research was partly supported by a Health Labour Sciences Research Grant (20EA1027). Publisher Copyright: {\textcopyright} 2022 by Okayama University Medical School",

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doi = "10.18926/AMO/63908",

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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

Y1 - 2022

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.

AB - 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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KW - Cancer precision medicine

KW - Germline findings

KW - Hereditary breast and ovarian cancer (hboc)

KW - Presumed germline pathogenic variants (pgpv)

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

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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