학술논문
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 / Unresectable advanced pancreatic cancer with BRCA2 pathogenic variant and genetic counseling for patients and relatives
Document Type
Journal Article
Author
Daisuke Ichikawa; Haruka Nakata; Hideaki Yagasaki; Hidenori Akaike; Hidetake Amemiya; Hiroki Ishiguro; Hiromitsu Kawaida; Katsutoshi Shoda; Kazuyoshi Hirayama; Kensuke Shiraishi; Maki Asakawa; Naohiro Hosomura; Naoki Ashizawa; Ryo Saito; Shingo Inoue; Shinji Furuya; Tetsuya Suzuki; Yoshihiko Kawaguchi; Yuko Nakayama; 中山 裕子; 中田 晴夏; 井上 慎吾; 古屋 信二; 川井田 博充; 市川 大輔; 平山 和義; 庄田 勝俊; 斎藤 亮; 河口 賀彦; 浅川 真巳; 白石 謙介; 矢ケ崎 英晃; 石黒 浩毅; 細村 直弘; 芦沢 直樹; 赤池 英憲; 鈴木 哲也; 雨宮 秀武
Source
遺伝性腫瘍 / Journal of Hereditary Tumors. 2023, 22(4):112
Subject
Language
Japanese
ISSN
2435-6808
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.