スズキ オキヒデ   SUZUKI Okihide
  鈴木 興秀
   所属   埼玉医科大学  医学部 総合医療センター ゲノム診療科
   職種   専任講師
論文種別 学術雑誌(症例報告)
言語種別 日本語
査読の有無 査読あり
表題 [A Case of Colon Cancer with Familial Adenomatous Polyposis Showing MSI-H and Deletion of MSH2/MSH6 Protein].
掲載誌名 正式名:Gan to kagaku ryoho. Cancer&chemotherapy
略  称:Gan To Kagaku Ryoho
ISSNコード:0385068403850684
掲載区分国内
巻・号・頁 42(12),2208-10頁
著者・共著者 Suzuki Okihide, Chika Noriyasu, Fukuchi Minoru, Kumamoto Kensuke, Kumagai Youichi, Ishibashi Keiichiro, Eguchi Hidetaka, Mochiki Erito, Akagi Kiwamu, Ishida Hideyuki
発行年月 2015/11
概要 A 31-year-old woman with familial adenomatous polyposis (FAP) was diagnosed with colon cancer. Genetic testing showed a germ cell line mutation of APC (a frame-shift mutation). Moreover, deletion of MSH2/MSH6 protein and high microsatellite instability (MSI-H) was detected. Therefore, Lynch syndrome (LS) associated with FAP was suspected. Additional analysis showed no pathogenic
PMID 26805313