Cancer risk and genotype-phenotype correlation in Japanese patients with Cowden syndrome

• 資料種別: 博士論文
• タイトル: Cancer risk and genotype-phenotype correlation in Japanese patients with Cowden syndrome
• 著者・編者: Teramae, Satoshi; Muguruma, Naoki; Okamoto, Koichi; Oseto, Kumiko; Nishikawa, Ryutaro; Tanoue, Takayuki; Hirata, Keiji; Yanai, Shunichi; Matsumoto, Takayuki; Shimizu, Seiji; Miwa, Jun; Sasaki, Yu; Yashima, Kazuo; Ohnuma, Hiroyuki; Sato, Yasushi; Kitayama, Yoshitaka; Ohda, Yoshio; Yamauchi, Atsushi; Sanomura, Yoji; Tanaka, Kumiko; Kubo, Yoshiaki; Ishikawa, Hideki; Bando, Yoshimi; Sonoda, Tomoko; Takayama, Tetsuji
• 著者標目: Teramae, Satoshi; Muguruma, Naoki; Okamoto, Koichi; Oseto, Kumiko; Nishikawa, Ryutaro; Tanoue, Takayuki; Hirata, Keiji; Yanai, Shunichi; Matsumoto, Takayuki; Shimizu, Seiji; Miwa, Jun; Sasaki, Yu; Yashima, Kazuo; Ohnuma, Hiroyuki; Sato, Yasushi; Kitayama, Yoshitaka; Ohda, Yoshio; Yamauchi, Atsushi; Sanomura, Yoji; Tanaka, Kumiko; Kubo, Yoshiaki; Ishikawa, Hideki; Bando, Yoshimi; Sonoda, Tomoko; Takayama, Tetsuji
• 出版事項: Japan Society of Clinical Oncology|Springer
• 出版年月日等: 2022-02-02; 27 4
• 出版年（W3CDTF）: 2022-02-02
• 並列タイトル等: カウデン症候群の日本人症例における発癌リスクと遺伝子型-表現型との関連について
• 授与機関名: 徳島大学
• 授与年月日: 2022-04-28
• 授与年月日（W3CDTF）: 2022-04-28
• 報告番号: 甲第3639号
• 学位: 博士（医学）
• 本文の言語コード: eng
• 件名標目: Cowden; PTEN; hamartoma; cancer; Cowden syndrome; genotype-phenotype correlation
• 対象利用者: 一般
• 一般注記: BackgroundCowden syndrome (CS) is an autosomal-dominant hereditary disorder caused by a germline PTEN variant and characterized by multiple hamartomas and a high risk of cancers. However, no detailed data on CS in Asian patients nor genotype-phenotype correlation have been reported.MethodsWe performed the first Japanese nationwide questionnaire survey on CS, and obtained questionnaire response data on 49 CS patients.ResultsPatients included 26 females (median age 48 y). The incidence of breast, thyroid, endometrium, and colorectal cancer was 32.7%, 12.2%, 19.2% (among females), and 6.1% respectively. The incidence of any cancers was relatively high among all patients (46.9%, 23/49), and particularly female patients (73.1%, 19/26), compared with previous reports from Western countries. Gastrointestinal (GI) polyps were more frequently found throughout the GI tract compared with previous studies. PTEN variants were detected in 95.6% (22/23) of patients; 12 in the N-terminal region (11 in phosphatase domain) and 10 in the C-terminal (C2 domain) region. The incidence of cancer in the C2 domain group was significantly higher than in the N-terminal region (phosphatase) group. All female patients with C2 domain variant had breast cancer.ConclusionOur data suggest that Japanese patients with CS, particularly female patients and patients with C2 domain variant may have a high risk of cancers.
• 国立国会図書館永続的識別子: info:ndljp/pid/12691024; https://dl.ndl.go.jp/pid/12691024
• コレクション（共通）: 障害者向け資料
• コレクション（障害者向け資料：レベル1）: テキストデータ
• コレクション（個別）: 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文; https://dl.ndl.go.jp/collections/A00014
• 収集根拠: 博士論文（自動収集）
• 受理日（W3CDTF）: 2023-03-07T16:07:40+09:00
• 記録形式（IMT）: application/pdf
• オンライン閲覧公開範囲: 国立国会図書館内限定公開
• デジタル化資料送信: 図書館・個人送信対象外
• 遠隔複写可否（NDL）: 可
• 掲載誌（URI）: http://repo.lib.tokushima-u.ac.jp/117152
• 連携機関・データベース: 国立国会図書館 : 国立国会図書館デジタルコレクション; https://dl.ndl.go.jp