{"created":"2023-06-19T08:46:51.759417+00:00","id":2534,"links":{},"metadata":{"_buckets":{"deposit":"0e17f2b1-7137-486e-a5be-9a0ae2d8ab60"},"_deposit":{"created_by":25,"id":"2534","owners":[25],"pid":{"revision_id":0,"type":"depid","value":"2534"},"status":"published"},"_oai":{"id":"oai:ycu.repo.nii.ac.jp:00002534","sets":["4:71:468:470"]},"author_link":["5074","5078","5082","5081","5073","5083","5079","5075","5076","5071","5072","5085","5080","5084","806","5077"],"item_10002_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2022-06-30","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2","bibliographicPageEnd":"34","bibliographicPageStart":"29","bibliographicVolumeNumber":"73","bibliographic_titles":[{"bibliographic_title":"横浜医学"},{"bibliographic_title":"YOKOHAMA MEDICAL JOURNAL","bibliographic_titleLang":"en"}]}]},"item_10002_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"本邦では2018年 6 月から転移再発乳癌症例に対するPARP阻害薬のコンパニオン診断として，2020年 4 月からは遺伝性乳癌卵巣癌症候群（Hereditary Breast and Ovarian Cancer Syndrome； HBOC）診断としてBRCA遺伝学的検査が保険収載された．今回我々は，当院におけるBRCA遺伝学的検査施行例の臨床病理学的特徴を集計し，BRCA遺伝子病的バリアント陽性例の特徴を考察した．対象と方法：2018年 6 月から2020年12月までにBRCA遺伝学的検査を施行した乳癌49例を対象とした．家族歴，臨床病理学的因子は診療録から後方視的に抽出した．BRCA遺伝学的検査の推奨は原則的にNCCNガイドライン，HBOC診療の手引き017年版に準じて行った．結果：女性48例，男性 1 例，年齢中央値は乳癌診断時47歳であった．検査理由はコンパニオン診断24例（49%），HBOC診断25例（51%）であった． 2 個以上の原発性乳癌を認めた症例は 3 例（6．1%）であった．第 3 度近親者までの乳癌家族歴は24例（49．0%）で認めた．ERが陽性の症例が31例（63．3%）で半数以上を占めた．HER2が陽性の症例は 6 例（13．0%）と少数であった．BRCA遺伝子バリアントは11例（22．4%）に認め，BRCA1；5 例，BRCA2； 6 例で，VUSは認めなかった．BRCA1病的バリアント陽性症例 5 例のうち，Triple Negativeタイプが 4 例（80．0%），BRCA2病的バリアント陽性症例 6 例のうち，Luminalタイプが 4 例（66．6%）であった．病的バリアント陽性例は陰性例と比較し第三度近親者までに乳癌歴のある確率が有意に高かった（81．8% vs 18．2%，p=0．018）．結語：BRCA遺伝子病的バリアント陽性例では第三度近親者までの乳癌の家族歴が有意に多かった．正確な家族歴の聴取が重要であると考えられた．","subitem_description_type":"Abstract"}]},"item_10002_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"横浜市立大学医学会"}]},"item_10002_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0372-7726","subitem_source_identifier_type":"ISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"原田, 郁"},{"creatorName":"ハラダ, フミ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"千島, 隆司"},{"creatorName":"チシマ, タカシ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"山本, 晋也"},{"creatorName":"ヤマモト, シンヤ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"柴田, 侑華子"},{"creatorName":"シバタ, ユカコ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"竹内, 英樹"},{"creatorName":"タケウチ, ヒデキ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"井上, 栞"},{"creatorName":"イノウエ, シオリ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"有岡, 仁"},{"creatorName":"アリオカ, ヒロシ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"遠藤, 格"},{"creatorName":"エンドウ, イタル","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Harada, Fumi","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Chishima, Takashi","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yamamoto, Shinya","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Shibata, Yukako","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Takeuchi, Hideki","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Inoue, Shiori","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Arioka, Hitoshi","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Endo, Itaru","creatorNameLang":"en"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2022-06-27"}],"displaytype":"detail","filename":"01_HaradaMD.pdf","filesize":[{"value":"571.8 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臨床病理学的因子に関する検討"},{"subitem_title":"CLINICOPATHOLOGICAL OUTCOME OF BRCA GENETIC TESTING IN BREAST CANCER:  A SINGLE INSTITUTION’S EXPERIENCE","subitem_title_language":"en"}]},"item_type_id":"10002","owner":"25","path":["470"],"pubdate":{"attribute_name":"公開日","attribute_value":"2022-06-27"},"publish_date":"2022-06-27","publish_status":"0","recid":"2534","relation_version_is_last":true,"title":["実臨床における乳癌既発症例に対するBRCA遺伝学的検査の現状と 臨床病理学的因子に関する検討"],"weko_creator_id":"25","weko_shared_id":-1},"updated":"2023-06-19T09:07:56.525073+00:00"}