{"created":"2023-06-19T10:43:11.857266+00:00","id":3370,"links":{},"metadata":{"_buckets":{"deposit":"9f915bab-9093-4f95-8d2f-d7c5afa0857e"},"_deposit":{"created_by":11,"id":"3370","owners":[11],"pid":{"revision_id":0,"type":"depid","value":"3370"},"status":"published"},"_oai":{"id":"oai:shiga-med.repo.nii.ac.jp:00003370","sets":["6:7:222:223"]},"author_link":["696","408","268","406","7503","404","7502","218","365","774","561"],"item_3_alternative_title_19":{"attribute_name":"タイトル(ヨミ)","attribute_value_mlt":[{"subitem_alternative_title":"トウイン ニ オケル イデンセイ ニュウガン シンリョウ ノ トリクミ ト ゲンキョウ : HBOC ノ シンリョウ タイセイ ト コンゴ ノ テンボウ ニ ツイテ"}]},"item_3_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2019-03-15","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"10","bibliographicPageStart":"6","bibliographicVolumeNumber":"32","bibliographic_titles":[{"bibliographic_title":"滋賀医科大学雑誌"}]}]},"item_3_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"本邦において乳癌は女性の癌罹患第1位であり,そのうち約5〜10%が遺伝性乳癌といわれている.遺伝性乳癌の約半数以上を占めるBRCA1,BRCA2遺伝子を原因遺伝子とする場合,遺伝性乳癌卵巣癌症候群(Hereditary Breast and Ovarian Cancer syndrome : HBOC)という.遺伝性乳癌を疑う場合に行う遺伝学的検査として,当院では2015年にBRCA1/2遺伝子検査と遺伝カウンセリング体制を自費診療として導入した. National Comprehensive Cancer Network (NCCN) ガイドラインを基準とし,遺伝カウンセリングは研修を修了した乳腺専門医や認定遺伝カウンセラーが協力して担当することとしている.2018年には本邦でも転移・再発乳がんの一部に対しPARP阻害薬のコンパニオン診断としてBRCA1/2遺伝子検査が保険承認され,当院は遺伝カウンセリング加算の施設基準に係る届出を行なっている医療機関として,近隣の医療機関と連携し積極的にこれを支援している.乳腺診療の現場では遺伝性乳癌に対して自費診療と保険診療が混在しているが,BRCA1/2遺伝子検査としての内容に実質的な変わりはなく,結果の解釈や血縁者に与える影響に対しては専門的知識が要求される.当院におけるBRCA1/2遺伝子検査と遺伝カウンセリングの体制は,自費診療で培った体制を活かしながら,HBOC診療に有効に機能している.また,マルチプレックス遺伝子パネル検査の普及により,今後,二次的所見としてHBOC以外の稀な遺伝性乳癌への対応が増えることも予測される.遺伝医学に関わる多職種でのチーム医療として乳癌を含む遺伝性腫瘍の診療に取り組み,それぞれのリスクに応じた医学的管理体制の充実などが望まれている.","subitem_description_type":"Abstract"}]},"item_3_description_42":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_description":"Departmental Bulletin Paper","subitem_description_type":"Other"}]},"item_3_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.14999/1521.00012501","subitem_identifier_reg_type":"JaLC"}]},"item_3_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"滋賀医科大学雑誌編集委員会"}]},"item_3_relation_11":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"10.14999/1521.00012501"}],"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"http://doi.org/10.14999/1521.00012501","subitem_relation_type_select":"DOI"}}]},"item_3_version_type_15":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"河合, 由紀"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"北村, 美奈"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"木村, 由梨"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"勝元, さえこ"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"佐藤, 智佳"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"茶野, 徳宏"}],"nameIdentifiers":[{},{},{}]},{"creatorNames":[{"creatorName":"冨田, 香"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"森, 毅"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"梅田, 朋子"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"清水, 智治"}],"nameIdentifiers":[{},{},{}]},{"creatorNames":[{"creatorName":"谷, 眞至"}],"nameIdentifiers":[{},{},{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-05-30"}],"displaytype":"detail","filename":"jsums3201p006.pdf","filesize":[{"value":"622.9 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"jsums3201p006","url":"https://shiga-med.repo.nii.ac.jp/record/3370/files/jsums3201p006.pdf"},"version_id":"b018ef51-ee10-4c13-9dbe-0e7f0d5f0238"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"遺伝性乳癌","subitem_subject_scheme":"Other"},{"subitem_subject":"HBOC","subitem_subject_scheme":"Other"},{"subitem_subject":"BRCA","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝子検査","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝カウンセリング","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"当院における遺伝性乳癌診療の取り組みと現況〜HBOCの診療体制と今後の展望について〜","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"当院における遺伝性乳癌診療の取り組みと現況〜HBOCの診療体制と今後の展望について〜"},{"subitem_title":"Clinical Practice of Hereditary Breast Cancer : Current States and Future Prospects of Hereditary Breast and Ovarian Cancer Syndrome","subitem_title_language":"en"}]},"item_type_id":"3","owner":"11","path":["223"],"pubdate":{"attribute_name":"公開日","attribute_value":"2019-05-30"},"publish_date":"2019-05-30","publish_status":"0","recid":"3370","relation_version_is_last":true,"title":["当院における遺伝性乳癌診療の取り組みと現況〜HBOCの診療体制と今後の展望について〜"],"weko_creator_id":"11","weko_shared_id":-1},"updated":"2023-06-19T11:15:36.784377+00:00"}