{"created":"2023-07-25T10:23:26.010249+00:00","id":3074,"links":{},"metadata":{"_buckets":{"deposit":"ad1482b5-f242-4b08-853f-e9baaa859e03"},"_deposit":{"created_by":3,"id":"3074","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"3074"},"status":"published"},"_oai":{"id":"oai:air.repo.nii.ac.jp:00003074","sets":["611:939:940"]},"author_link":["10818","10830","10823","10824","10831","10821","10819","10827","10820","10826","10825","10829","10822","10817","10828"],"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2016","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"6","bibliographicPageEnd":"776","bibliographicPageStart":"770","bibliographicVolumeNumber":"40","bibliographic_titles":[{"bibliographic_title":"American Journal of Surgical Pathology"}]}]},"item_10001_description_5":{"attribute_name":"内容記述（抄録）","attribute_value_mlt":[{"subitem_description":"Lynch syndrome (LS) is an autosomal dominant inherited disorder mainly caused by a   germline  mutation in the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS2) and is   associated with  increased risk of various cancers, particularly colorectal cancer and endometrial   cancer (EC).  Women with LS account for 2–6% of EC patients; it is clinically important to identify   LS in such  individuals for predicting and/or preventing additional LS-associated cancers. PMS2   germline  mutation (PMS2-LS) is the rarest contribution to LS etiology among the four LS-  associated MMR  germline mutations, and its detection is complicated. Therefore, prudent screening for   PMS2-LS is  important as it leads to an efficient LS-identification strategy. Immunohistochemistry   (IHC) is  recommended as a screening method for LS in EC. Isolated loss of PMS2 expression (IL-  PMS2) is  caused not only by PMS2-LS but also by MLH1 germline mutation or MLH1 promoter   hypermethylation  (MLH-PHM). This study aimed to determine the association between MLH1-PHM and IL-PMS2   to avoid  inappropriate genetic analysis. We performed MLH1 methylation analysis and MLH1/PMS2   germline  mutation testing for the IL-PMS2 cases. By performing MMR-IHC for 360 unselected ECs,   we selected  eight (2.2%) cases as IL-PMS2. Heterogeneous MLH1 staining and MLH1-PHM were detected   in 4/8 (50%)  IL-PMS2 tumors. Out of five IL-PMS2 patients who underwent genetic analysis, one had   PMS2 germline  mutation with normal MLH1 expression (without MLH1-PHM) and no MLH1 germline mutation   was detected.  We suggest that MLH1 promoter methylation analysis for IL-PMS2 EC should be performed   to exclude  sporadic cases prior to further PMS2 genetic testing.","subitem_description_type":"Other"}]},"item_10001_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.20569/00003439","subitem_identifier_reg_type":"JaLC"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Lippincott Williams and Wilkins"}]},"item_10001_relation_14":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"info:doi/10.1097/PAS.0000000000000606 ","subitem_relation_type_select":"DOI"}}]},"item_10001_rights_15":{"attribute_name":"著作権等","attribute_value_mlt":[{"subitem_rights":"Lippincott Williams and Wilkins"}]},"item_10001_source_id_11":{"attribute_name":"NCID","attribute_value_mlt":[{"subitem_source_identifier":"AA12538905","subitem_source_identifier_type":"NCID"}]},"item_10001_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"15320979","subitem_source_identifier_type":"ISSN"}]},"item_10001_text_26":{"attribute_name":"備考","attribute_value_mlt":[{"subitem_text_value":"秋田大学審査学位論文の著者稿, 学位名：博士（医学）, 学位授与年月日：20160322, 学位授与番号：11401甲第1157号"}]},"item_10001_version_type_20":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Kato, Aya"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Sato, Naoki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Sugawara, Tae"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Takahashi, Kazue"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kito, Masahiko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Makino, Kenichi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Sato, Toshiharu"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Shimizu, Dai"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Shirasawa, Hiromitu"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Miura, Hiroshi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Sato, Wataru"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kumazawa, Yukiyo"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Sato, Akira"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kumagai, Jin"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Terada, Yukihiro"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2017-11-13"}],"displaytype":"detail","filename":"ihakukou1157.pdf","filesize":[{"value":"1.5 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"ihakukou1157.pdf","url":"https://air.repo.nii.ac.jp/record/3074/files/ihakukou1157.pdf"},"version_id":"4de0f465-6ae9-4aa4-9f5e-82a54ec02911"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Lynch syndrome","subitem_subject_scheme":"Other"},{"subitem_subject":"endometrial cancer","subitem_subject_scheme":"Other"},{"subitem_subject":"PMS2","subitem_subject_scheme":"Other"},{"subitem_subject":"MLH1 promoter hypermethylation","subitem_subject_scheme":"Other"},{"subitem_subject":"heterogeneous","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Isolated loss of PMS2 immunohistochemical expression is frequently caused by   heterogeneous MLH1  promoter hypermethylation in Lynch syndrome screening for endometrial cancer patients","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Isolated loss of PMS2 immunohistochemical expression is frequently caused by   heterogeneous MLH1  promoter hypermethylation in Lynch syndrome screening for endometrial cancer patients"}]},"item_type_id":"10001","owner":"3","path":["940"],"pubdate":{"attribute_name":"公開日","attribute_value":"2017-11-13"},"publish_date":"2017-11-13","publish_status":"0","recid":"3074","relation_version_is_last":true,"title":["Isolated loss of PMS2 immunohistochemical expression is frequently caused by   heterogeneous MLH1  promoter hypermethylation in Lynch syndrome screening for endometrial cancer patients"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-07-25T11:27:21.592090+00:00"}