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

• Material Type: 博士論文
• Title: Cancer risk and genotype-phenotype correlation in Japanese patients with Cowden syndrome
• Author/Editor: 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
• Author Heading: 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
• Publication, Distribution, etc.: Japan Society of Clinical Oncology|Springer
• Publication Date: 2022-02-02
• Publication Date (W3CDTF): 2022-02-02
• Alternative Title: 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
• Periodical title: International Journal of Clinical Oncology
• No. or year of volume/issue: 27 4
• Volume: 27
• Issue: 4
• Pages: 639-647
• ISSN (Periodical Title): ISSN : 1341-9625; ISSN : 1437-7772
• Degree grantor/type: 徳島大学
• Date Granted: 2022-04-28
• Dissertation Number: 甲第3639号
• Degree Type: 博士（医学）
• Text Language Code: eng
• Subject Heading: Cowden; PTEN; hamartoma; cancer; Cowden syndrome; genotype-phenotype correlation
• Target Audience: 一般
• Note (General): Background Cowden 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. Methods We performed the first Japanese nationwide questionnaire survey on CS, and obtained questionnaire response data on 49 CS patients. Results Patients 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. Conclusion Our data suggest that Japanese patients with CS, particularly female patients and patients with C2 domain variant may have a high risk of cancers.
• Access Restrictions: インターネット公開
• Related Material (DOI): 10.1007/s10147-022-02116-w
• Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）; https://irdb.nii.ac.jp
• Original Data Provider (Database): 徳島大学 : 徳島大学機関リポジトリ

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