BRCA2の病的バリアントを有する切除不能進行膵臓癌患者とその血縁者に対する遺伝カウンセリングの経験

井上 慎吾; 鈴木 哲也; 浅川 真巳; 芦沢 直樹; 中田 晴夏; 中山 裕子; 矢ケ崎 英晃; 石黒 浩毅; 斎藤 亮; 平山 和義; 古屋 信二; 白石 謙介; 庄田 勝俊; 赤池 英憲; 河口 賀彦; 細村 直弘; 雨宮 秀武; 川井田 博充; 市川 大輔

doi:10.18976/jsht.22.4_112

Case report

Unresectable advanced pancreatic cancer with BRCA2 pathogenic variant and genetic counseling for patients and relatives

Shingo Inoue, Tetsuya Suzuki, Maki Asakawa, Naoki Ashizawa, Haruka Nakata, Yuko Nakayama, Hideaki Yagasaki, Hiroki Ishiguro, Ryo Saito, Kazuyoshi Hirayama, Shinji Furuya, Kensuke Shiraishi, Katsutoshi Shoda, Hidenori Akaike, Yoshihiko Kawaguchi, Naohiro Hosomura, Hidetake Amemiya, Hiromitsu Kawaida, Daisuke Ichikawa

Author information

Shingo Inoue [Japan]
First Department of Surgery, Faculty of Medicine, University of Yamanashi
Medical Center of Genetic Disease, University of Yamanashi Hospital
Tetsuya Suzuki [Japan]
Faculty of Surgery, National Hospital Organization Kofu National Hospital
Maki Asakawa [Japan]
Faculty of Surgery, National Hospital Organization Kofu National Hospital
Naoki Ashizawa [Japan]
First Department of Surgery, Faculty of Medicine, University of Yamanashi
Haruka Nakata [Japan]
First Department of Surgery, Faculty of Medicine, University of Yamanashi
Yuko Nakayama [Japan]
First Department of Surgery, Faculty of Medicine, University of Yamanashi
Hideaki Yagasaki [Japan]
Medical Center of Genetic Disease, University of Yamanashi Hospital
Hiroki Ishiguro [Japan]
Medical Center of Genetic Disease, University of Yamanashi Hospital
Ryo Saito [Japan]
First Department of Surgery, Faculty of Medicine, University of Yamanashi
Kazuyoshi Hirayama [Japan]
First Department of Surgery, Faculty of Medicine, University of Yamanashi
Shinji Furuya [Japan]
First Department of Surgery, Faculty of Medicine, University of Yamanashi
Kensuke Shiraishi [Japan]
First Department of Surgery, Faculty of Medicine, University of Yamanashi
Katsutoshi Shoda [Japan]
First Department of Surgery, Faculty of Medicine, University of Yamanashi
Hidenori Akaike [Japan]
First Department of Surgery, Faculty of Medicine, University of Yamanashi
Yoshihiko Kawaguchi [Japan]
First Department of Surgery, Faculty of Medicine, University of Yamanashi
Naohiro Hosomura [Japan]
First Department of Surgery, Faculty of Medicine, University of Yamanashi
Hidetake Amemiya [Japan]
First Department of Surgery, Faculty of Medicine, University of Yamanashi
Hiromitsu Kawaida [Japan]
First Department of Surgery, Faculty of Medicine, University of Yamanashi
Daisuke Ichikawa [Japan]
First Department of Surgery, Faculty of Medicine, University of Yamanashi

Keywords: hereditary breast and ovary cancer syndrome, BRCA1/2, pancreatic cancer, PARP inhibitor, genetic counseling, companion diagnostics

JOURNAL OPEN ACCESS

2023 Volume 22 Issue 4 Pages 112-116

DOI https://doi.org/10.18976/jsht.22.4_112

Details

Abstract

　Unresectable advanced pancreatic cancer using genetic testing of germline BRCA1/2 was performed, which was approved as companion diagnostics to determine the suitability of poly ADP-ribose polymerase (PARP) inhibitor．It may not be recognized that this testing is also used for the diagnosis of hereditary breast and ovarian cancer syndrome(HBOC)．We conducted genetic counseling for two cases of unresectable advanced pancreatic cancer cases with BRCA2 pathogenic variants．For case 1, a woman proband in her 60s was explained regarding HBOC twice before and after BRCA1/2 testing．A prostatic cancer was found in one of her relatives by family history．For case 2, the daughter and son of a male proband in his 60s visited after the result of his testing were disclosed．They were confused when they first learned that their father was diagnosed with HBOC, and have not been to the hospital since then．Genetic counseling is necessary even before testing and HBOC awareness should be shared among their relatives.

Corresponding author

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