Epigenetic analysis and clinical application in gynecologic malignant tumors
Project/Area Number |
17K16881
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Obstetrics and gynecology
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Research Institution | Japanese Foundation for Cancer Research (2021-2022) Keio University (2019-2020) 独立行政法人国立病院機構(東京医療センター臨床研究センター) (2017-2018) |
Principal Investigator |
UEKI Arisa 公益財団法人がん研究会, 有明病院 臨床遺伝医療部, 部長 (60445319)
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Project Period (FY) |
2017-04-01 – 2023-03-31
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Project Status |
Completed (Fiscal Year 2022)
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Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2017: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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Keywords | エピジェネティクス / 遺伝性腫瘍 / メチル化 / ヒストン修飾 / 発癌ドライバー / 子宮体癌 / 卵巣癌 / 癌 / 婦人科悪性腫瘍 |
Outline of Final Research Achievements |
Epigenetic modification in carcinogenesis have been reported and attracted attention in some carcinomas. In particular, some hereditary tumors have been reported to be associated with promoter hypermethylation upstream of causative genes. Initially, this study was designed to analyze epigenetic modification in gynecologic malignancies. The recent clinical application of cancer genomic medicine has made it possible to use both exome and whole genome analysis results from various cancers. Therefore, we examined about 500 cancer genome analysis results and epigenetic-related gene expression in various cancers.
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Academic Significance and Societal Importance of the Research Achievements |
がん遺伝子パネル検査の保険収載を受けて、発がんドライバーの検討は一般診療の中でも必須となりつつある。一方でエピジェネティックな修飾機序は、通常のがん遺伝子パネル検査では十分に解析できず、また治療に直結できない点で課題は残るものの、新たな治療戦略として期待されている。社会背景の変化を受け本研究ではgermline findingsの検出頻度、開示方法についても検討し、遺伝性腫瘍診断を治療選択に活用するための社会実装に携わった。
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Report
(7 results)
Research Products
(78 results)
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[Journal Article] Impact of the coverage of risk-reducing salpingo-oophorectomy by the national insurance system for women with BRCA pathogenic variants in Japan2023
Author(s)
Nomura H.,Abe A.,Fusegi A.,Yoshimitsu T.,Misaka S.,Murakami A.,Matsumoto T.,Tsumura S.,Kanno M.,Aoki Y.,Netsu S.,Omi M.,Tanigawa T.,Okamoto S.,Omatsu K.,Yunokawa M.,Kanao H.,Habano E.,Arakawa H.,Kaneko K.,Ueki A.,Haruyama Y.,Inari H.,Ueno T.
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Journal Title
Scientific Reports
Volume: 13
Issue: 1
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey2022
Author(s)
Minamoto A, Yamada T, Shimada S, Kinoshita I, Aoki Y, Oda K, Ueki A, Higashigawa S, Morikawa M, Sato Y, Hirasawa A, Ogawa M, Kondo T, Yoshioka M, Kanai M, Muto M, Kosugi S
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Journal Title
J Hum Genet
Volume: -
Issue: 10
Pages: 557-563
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling2021
Author(s)
Ueki Arisa、Sugano Kokichi、Misu Kumiko、Aimono Eriko、Nakamura Kohei、Tanishima Shigeki、Tanaka Nobuyuki、Mikami Shuji、Hirasawa Akira、Ando Miho、Yoshida Teruhiko、Oya Mototsugu、Nishihara Hiroshi、Kosaki Kenjiro
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Journal Title
International Journal of Molecular Sciences
Volume: 22
Issue: 15
Pages: 7962-7962
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome2020
Author(s)
Yoshihama Tomoko, Hirasawa Akira, Sugano Kokichi, Yoshida Teruhiko, Ushiama Mineko, Ueki Arisa, Akahane Tomoko, Nanki Yoshiko, Sakai Kensuke, Makabe Takeshi, Yamagami Wataru, Susumu Nobuyuki, Kameyama Kaori, Kosaki Kenjiro, Aoki Daisuke.
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Journal Title
International Cancer Conference Journal
Volume: 10
Issue: 1
Pages: 6-10
DOI
NAID
Related Report
Peer Reviewed
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[Journal Article] Cowden syndrome complicated by schizophrenia: A first clinical report2020
Author(s)
Kobayashi Yusuke、Takeda Takashi、Kunitomi Haruko、Ueki Arisa、Misu Kumiko、Kowashi Ayari、Takahashi Takayuki、Anko Mayuka、Watanabe Keiko、Masuda Kenta、Uchida Takahito、Tominaga Eiichiro、Banno Kouji、Kosaki Kenjiro、Aoki Daisuke
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Journal Title
European Journal of Medical Genetics
Volume: 63
Issue: 8
Pages: 103959-103959
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] 一般病院における家族性腫瘍相談外来とハイリスク外来の開設―一般病院に求められる家族性腫瘍診療の意義についての考察―2017
Author(s)
植木有紗, 中田さくら, 安齋純子, 麻薙美香, 嶋田恭輔, 久保内光一, 三須久美子, 平沢晃, 阪埜浩司, 菅野康吉, 小崎健次郎, 青木大輔.
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Journal Title
家族性腫瘍
Volume: 16(2)
Pages: 38-43
NAID
Related Report
Peer Reviewed / Open Access
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[Presentation] 当院で経験したCowden症候群/PTEN過誤腫症候群9例の検討2022
Author(s)
幅野愛理, 新川裕美, 金子景香, 中島健, 千野晶子, 五十嵐正広, 吉水祥一, 由雄敏之, 井上有香, 杉谷巌, 戸田和寿, 杉山裕子, 阿部彰子, 伏木淳, 野村秀高, 森誠一, 河内洋, 植木有紗
Organizer
第28回日本遺伝性腫瘍学会学術集会
Related Report
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[Presentation] BRCA1/2病的バリアントを保持するがん未発症者への生殖に関する遺伝カウンセリングの課題2022
Author(s)
新川裕美, 金子景香, 幅野愛理, 植木有紗, 片岡明美, 小野麻紀子, 阿部朋未, 佐山郁子, 黒田直子, 中村暁, 春山優理恵, 前田哲代, 中島絵里, 稲荷均, 高野利実, 上野貴之, 大野真司
Organizer
第30回日本乳癌学会総会
Related Report
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[Presentation] BRCA1/2病的バリアント保持がん未発症者への生殖に関連した情報提供での課題2022
Author(s)
新川裕美, 金子景香, 幅野愛理, 箕浦祐子, 髙津美月, 阿部朋未, 小野麻紀子, 青木洋一, 片岡明美, 高野利実, 阿部彰子, 野村秀高, 金尾祐之, 大野真司, 植木有紗
Organizer
第8回日本産科婦人科遺伝診療学会学術講演会
Related Report
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