{"created":"2024-12-12T07:33:51.280184+00:00","id":2009994,"links":{},"metadata":{"_buckets":{"deposit":"f72596f6-73de-4d96-a200-e12936ab168b"},"_deposit":{"created_by":7,"id":"2009994","owners":[7],"pid":{"revision_id":0,"type":"depid","value":"2009994"},"status":"published"},"_oai":{"id":"oai:tokushima-u.repo.nii.ac.jp:02009994","sets":["1713853213384:1713853296295:1716267876683:1716268551628"]},"author_link":["852","1559","1572","349","1539","287"],"control_number":"2009994","item_10001_alternative_title_1":{"attribute_name":"タイトル別表記","attribute_value_mlt":[{"subitem_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","subitem_alternative_title_language":"ja"}]},"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2022-02-02","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"4","bibliographicPageEnd":"647","bibliographicPageStart":"639","bibliographicVolumeNumber":"27","bibliographic_titles":[{"bibliographic_title":"International Journal of Clinical Oncology","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Background\nCowden 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.\nMethods\nWe performed the first Japanese nationwide questionnaire survey on CS, and obtained questionnaire response data on 49 CS patients.\nResults\nPatients 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.\nConclusion\nOur data suggest that Japanese patients with CS, particularly female patients and patients with C2 domain variant may have a high risk of cancers.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Japan Society of Clinical Oncology","subitem_publisher_language":"en"},{"subitem_publisher":"Springer","subitem_publisher_language":"en"}]},"item_10001_source_id_9":{"attribute_name":"収録物ID","attribute_value_mlt":[{"subitem_source_identifier":"13419625","subitem_source_identifier_type":"ISSN"},{"subitem_source_identifier":"14377772","subitem_source_identifier_type":"ISSN"},{"subitem_source_identifier":"AA11086579","subitem_source_identifier_type":"NCID"}]},"item_10001_version_type_20":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_be7fb7dd8ff6fe43","subitem_version_type":"NA"}]},"item_1714461018643":{"attribute_name":"報告番号","attribute_value_mlt":[{"subitem_dissertationnumber":"甲第3639号"}]},"item_1714461102074":{"attribute_name":"学位名","attribute_value_mlt":[{"subitem_degreename":"博士(医学)","subitem_degreename_language":"ja"}]},"item_1714461118377":{"attribute_name":"学位授与年月日","attribute_value_mlt":[{"subitem_dategranted":"2022-04-28"}]},"item_1714461137393":{"attribute_name":"学位授与機関","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_language":"ja","subitem_degreegrantor_name":"徳島大学"}]}]},"item_1715043197608":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open access"}]},"item_1718868208704":{"attribute_name":"備考","attribute_value_mlt":[{"subitem_textarea_language":"ja","subitem_textarea_value":"内容要旨・審査要旨・論文本文の公開\n本論文は,著者Satoshi Teramaeの学位論文として提出され,学位審査・授与の対象となっている。\nThis version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature’s AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: https://doi.org/10.1007/s10147-022-02116-w\n学位授与者所属 : 徳島大学大学院医学研究科(医学専攻)"}]},"item_1718868303842":{"attribute_name":"学位記番号","attribute_value_mlt":[{"subitem_text_language":"ja","subitem_text_value":"甲医第1534号"}]},"item_1722929371688":{"attribute_name":"出版社版DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_language":"ja","subitem_relation_name_text":"10.1007/s10147-022-02116-w"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1007/s10147-022-02116-w","subitem_relation_type_select":"DOI"}}]},"item_1723180141928":{"attribute_name":"EID","attribute_value_mlt":[{"subitem_identifier_type":"URI","subitem_identifier_uri":"384284"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"寺前, 智史","creatorNameLang":"ja"},{"creatorName":"テラマエ, サトシ","creatorNameLang":"ja-Kana"},{"creatorName":"Teramae, 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