{"created":"2024-10-30T09:49:57.256882+00:00","id":2007747,"links":{},"metadata":{"_buckets":{"deposit":"0dd4bafd-b456-4121-b0e9-e7e002361992"},"_deposit":{"created_by":7,"id":"2007747","owners":[7],"pid":{"revision_id":0,"type":"depid","value":"2007747"},"status":"published"},"_oai":{"id":"oai:tokushima-u.repo.nii.ac.jp:02007747","sets":["1713853213384:1713853295607"]},"author_link":["316"],"control_number":"2007747","item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2018-10-04","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"4083","bibliographicVolumeNumber":"9","bibliographic_titles":[{"bibliographic_title":"Nature Communications","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Pathogenic variants in highly penetrant genes are useful for the diagnosis, therapy, and surveillance for hereditary breast cancer. Large-scale studies are needed to inform future testing and variant classification processes in Japanese. We performed a case-control association study for variants in coding regions of 11 hereditary breast cancer genes in 7051 unselected breast cancer patients and 11,241 female controls of Japanese ancestry. Here, we identify 244 germline pathogenic variants. Pathogenic variants are found in 5.7% of patients, ranging from 15% in women diagnosed <40 years to 3.2% in patients ≥80 years, with BRCA1/2, explaining two-thirds of pathogenic variants identified at all ages. BRCA1/2, PALB2, and TP53 are significant causative genes. Patients with pathogenic variants in BRCA1/2 or PTEN have significantly younger age at diagnosis. In conclusion, BRCA1/2, PALB2, and TP53 are the major hereditary breast cancer genes, irrespective of age at diagnosis, in Japanese women.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Springer Nature","subitem_publisher_language":"en"}]},"item_10001_rights_15":{"attribute_name":"権利情報","attribute_value_mlt":[{"subitem_rights":"This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.\n© The Author(s) 2018","subitem_rights_language":"en"}]},"item_10001_source_id_9":{"attribute_name":"収録物ID","attribute_value_mlt":[{"subitem_source_identifier":"20411723","subitem_source_identifier_type":"ISSN"},{"subitem_source_identifier":"AA12645905","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_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"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":"所属英表記誤記あり\n(誤)National Cancer Centre→(正)National Cancer Center\n(誤)Tochigi Cancer Centre→(正)Tochigi Cancer Center"}]},"item_1722929371688":{"attribute_name":"出版社版DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_language":"ja","subitem_relation_name_text":"10.1038/s41467-018-06581-8"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1038/s41467-018-06581-8","subitem_relation_type_select":"DOI"}}]},"item_1723180141928":{"attribute_name":"EID","attribute_value_mlt":[{"subitem_identifier_type":"URI","subitem_identifier_uri":"346449"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"モモザワ, ユキヒデ","creatorNameLang":"ja"},{"creatorName":"モモザワ, ユキヒデ","creatorNameLang":"ja-Kana"},{"creatorName":"Momozawa, Yukihide","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"イワサキ, ユウスケ","creatorNameLang":"ja"},{"creatorName":"イワサキ, ユウスケ","creatorNameLang":"ja-Kana"},{"creatorName":"Iwasaki, Yusuke","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Parsons, Michael T.","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"カマタニ, ヨウイチロウ","creatorNameLang":"ja"},{"creatorName":"カマタニ, ヨウイチロウ","creatorNameLang":"ja-Kana"},{"creatorName":"Kamatani, Yoichiro","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"タカハシ, アツシ","creatorNameLang":"ja"},{"creatorName":"タカハシ, アツシ","creatorNameLang":"ja-Kana"},{"creatorName":"Takahashi, Atsushi","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"タムラ, チエコ","creatorNameLang":"ja"},{"creatorName":"タムラ, チエコ","creatorNameLang":"ja-Kana"},{"creatorName":"Tamura, Chieko","creatorNameLang":"en"}]},{"creatorAffiliations":[{"affiliationNameIdentifiers":[{"affiliationNameIdentifier":"","affiliationNameIdentifierScheme":"ISNI","affiliationNameIdentifierURI":"http://www.isni.org/isni/"}],"affiliationNames":[{"affiliationName":"","affiliationNameLang":"ja"}]}],"creatorNames":[{"creatorName":"片桐, 豊雅","creatorNameLang":"ja"},{"creatorName":"カタギリ, トヨマサ","creatorNameLang":"ja-Kana"},{"creatorName":"Katagiri, Toyomasa","creatorNameLang":"en"}],"familyNames":[{"familyName":"片桐","familyNameLang":"ja"},{"familyName":"カタギリ","familyNameLang":"ja-Kana"},{"familyName":"Katagiri","familyNameLang":"en"}],"givenNames":[{"givenName":"豊雅","givenNameLang":"ja"},{"givenName":"トヨマサ","givenNameLang":"ja-Kana"},{"givenName":"Toyomasa","givenNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"316","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"174774/profile-ja.html","nameIdentifierScheme":"徳島大学 教育研究者総覧","nameIdentifierURI":"http://pub2.db.tokushima-u.ac.jp/ERD/person/174774/profile-ja.html"},{"nameIdentifier":"60291895","nameIdentifierScheme":"e-Rad","nameIdentifierURI":"https://nrid.nii.ac.jp/ja/search/?qm=60291895"}]},{"creatorNames":[{"creatorName":"ヨシダ, テルヒコ","creatorNameLang":"ja"},{"creatorName":"ヨシダ, テルヒコ","creatorNameLang":"ja-Kana"},{"creatorName":"Yoshida, Teruhiko","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"ナカムラ, セイゴ","creatorNameLang":"ja"},{"creatorName":"ナカムラ, セイゴ","creatorNameLang":"ja-Kana"},{"creatorName":"Nakamura, Seigo","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"スガノ, コウキチ","creatorNameLang":"ja"},{"creatorName":"スガノ, コウキチ","creatorNameLang":"ja-Kana"},{"creatorName":"Sugano, Kokichi","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"ミキ, ヨシオ","creatorNameLang":"ja"},{"creatorName":"ミキ, ヨシオ","creatorNameLang":"ja-Kana"},{"creatorName":"Miki, Yoshio","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"ヒラタ, マコト","creatorNameLang":"ja"},{"creatorName":"ヒラタ, マコト","creatorNameLang":"ja-Kana"},{"creatorName":"Hirata, Makoto","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"マツダ, コウイチ","creatorNameLang":"ja"},{"creatorName":"マツダ, コウイチ","creatorNameLang":"ja-Kana"},{"creatorName":"Matsuda, Koichi","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Spurdle, Amanda B.","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"クボ, ミチアキ","creatorNameLang":"ja"},{"creatorName":"クボ, ミチアキ","creatorNameLang":"ja-Kana"},{"creatorName":"Kubo, Michiaki","creatorNameLang":"en"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2020-12-25"}],"displaytype":"detail","filename":"ncomms_9_4083.pdf","filesize":[{"value":"985 KB"}],"format":"application/pdf","licensetype":"license_0","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://tokushima-u.repo.nii.ac.jp/record/2007747/files/ncomms_9_4083.pdf"},"version_id":"04739e0f-ede4-4af0-8ebd-b345205718b4"}]},"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":"Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls","subitem_title_language":"en"}]},"item_type_id":"40001","owner":"7","path":["1713853295607"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2020-12-25"},"publish_date":"2020-12-25","publish_status":"0","recid":"2007747","relation_version_is_last":true,"title":["Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls"],"weko_creator_id":"7","weko_shared_id":-1},"updated":"2025-01-27T07:24:28.341488+00:00"}