{"created":"2022-04-04T06:58:53.393852+00:00","id":2000294,"links":{},"metadata":{"_buckets":{"deposit":"5cec0e27-c003-4f69-be2c-37b21ba9932b"},"_deposit":{"id":"2000294","owners":[1],"pid":{"revision_id":0,"type":"depid","value":"2000294"},"status":"published"},"_oai":{"id":"oai:niigata-u.repo.nii.ac.jp:02000294","sets":["453:455","471:561:562"]},"author_link":[],"control_number":"2000294","item_6_date_granted_51":{"attribute_name":"学位授与年月日","attribute_value_mlt":[{"subitem_dategranted":"2021-03-23"}]},"item_6_degree_grantor_49":{"attribute_name":"学位授与機関","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_language":"ja","subitem_degreegrantor_name":"新潟大学"},{"subitem_degreegrantor_language":"en","subitem_degreegrantor_name":"Niigata University"}],"subitem_degreegrantor_identifier":[{"subitem_degreegrantor_identifier_name":"13101","subitem_degreegrantor_identifier_scheme":"kakenhi"}]}]},"item_6_degree_name_48":{"attribute_name":"学位名","attribute_value_mlt":[{"subitem_degreename":"博士（医学）","subitem_degreename_language":"ja"}]},"item_6_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"【背景】がん遺伝子パネル検査は，腫瘍組織及び血液等の正常組織を用いる検査と，腫瘍組織のみを用いる検査とがある．後者では，生殖細胞系列由来か否かは不明であり，遺伝子変異の特徴や臨床情報等から生殖細胞系列由来の可能性について検討し，場合によって二次的所見開示を考慮する必要がある．本研究の目的は，トリプルネガティブ乳癌患者において，腫瘍組織のみを用いたがん遺伝子パネル検査で検出された体細胞変異について，遺伝子変異の特徴や臨床情報に基づき，生殖細胞系列由来の可能性について検討することである．【方法】腫瘍組織のみを用いた次世代シークエンサーによるがん遺伝子パネル検査を研究目的に実施したトリプルネガティブ乳癌32例を対象とした．「がん遺伝子パネル検査 二次的所見 患者開示 推奨度別リスト(Ver2.0)」(AMED小杉班)に記載されている遺伝子変異を抽出した．遺伝子変異について，公的データベース(ClinVar)を用いて，病的意義の検討を行い，変異遺伝子の種類，アリル頻度，臨床情報に基づき，生殖細胞系列の遺伝子変異の可能性について検討した．【結果】32例中27例でリストに記載されている遺伝子に変異を認め，変異遺伝子の数はのべ55遺伝子であった．最も変異を多く認めた遺伝子はTP53 23例で，続いてPTEN 7例，BRCA1 4例であった．ClinVarにおいて病的変異を認めた症例は13例(40%)で，TP53 6例，TP53とPTEN 3例，TP53とBRCA1が1例，BRCA1が3例であった．アリル頻度は0.18-0.76とばらつきを認めた．12例のうち，遺伝性腫瘍に関連がある既往歴を有したのは2例(TP53 平滑筋肉腫，PTEN 甲状腺腫瘍)，家族歴を有する症例は1例認めた．【結論】トリプルネガティブ乳癌において，がん遺伝子パネル検査で検出された体細胞変異のうち，二次的所見開示の検討を要する変異は約3分の1の症例に認め，TP53 PTEN及びBRCA1変異を高頻度に認めた．遺伝子ごとに生殖細胞系列変異由来の可能性が異なることに留意し，その臨床遺伝学的特徴を理解した上で，適切な対応が求められる．","subitem_description_language":"ja","subitem_description_type":"Abstract"}]},"item_6_description_53":{"attribute_name":"学位記番号","attribute_value_mlt":[{"subitem_description":"新大院博(医)第989号","subitem_description_language":"ja","subitem_description_type":"Other"}]},"item_6_dissertation_number_52":{"attribute_name":"学位授与番号","attribute_value_mlt":[{"subitem_dissertationnumber":"甲第4835号"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"利川, 千絵","creatorNameLang":"ja"},{"creatorName":"Toshikawa, Chie","creatorNameLang":"en"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"date":[{"dateType":"Available","dateValue":"2022-04-04"}],"displaytype":"detail","filename":"r2nmk989.pdf","filesize":[{"value":"678KB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"本文","objectType":"fulltext","url":"https://niigata-u.repo.nii.ac.jp/record/2000294/files/r2nmk989.pdf"},"version_id":"ae2775e1-6dcc-4e55-b149-8786faa3b3dc"},{"date":[{"dateType":"Available","dateValue":"2022-04-04"}],"displaytype":"detail","filename":"r2nmk989_a.pdf","filesize":[{"value":"544KB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"要旨","objectType":"abstract","url":"https://niigata-u.repo.nii.ac.jp/record/2000294/files/r2nmk989_a.pdf"},"version_id":"b66b112c-e9c7-4ab4-b402-067ad3810c30"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"トリプルネガティブ乳癌","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"次世代シークエンサー","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"生殖細胞系列変異","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"二次的所見","subitem_subject_language":"ja","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":"doctoral 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