Devise of identification strategy and management guidelines for Lynch syndrome in endometrial cancer
| Project/Area Number |
16K11127
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Obstetrics and gynecology
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| Research Institution | Akita University |
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Principal Investigator |
Sato Naoki 秋田大学, 医学系研究科, 准教授 (40447199)
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| Co-Investigator(Kenkyū-buntansha) |
高橋 和江 秋田大学, 医学部, 医員 (40764072)
加藤 彩 秋田大学, 医学部, 医員 (70764059)
寺田 幸弘 秋田大学, 医学系研究科, 教授 (10260431)
菅原 多恵 秋田大学, 医学部附属病院, 医員 (40566163)
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2018: ¥260,000 (Direct Cost: ¥200,000、Indirect Cost: ¥60,000)
Fiscal Year 2017: ¥260,000 (Direct Cost: ¥200,000、Indirect Cost: ¥60,000)
Fiscal Year 2016: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
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| Keywords | リンチ症候群 / 子宮内膜癌 / 識別戦略 / スクリーニング / 遺伝性腫瘍 / ミスマッチ修復 / 子宮体癌 / 遺伝性子宮体癌 / 遺伝子解析 |
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| Outline of Final Research Achievements |
A Lynch syndrome (LS) identification study in 360 cases of endometrial cancer (EC) was conducted. Immunostaining of mismatch repair (MMR) proteins and selective methylation analysis were performed, and genetic tests were applied to the “suspected LS" cases. In the course of this study, we found and reported that isolated loss of PMS2 protein is frequently caused by hyper-methylation of MLH1 promoter. Our derivative task was to capture the clinical features of Lynch-like cases (LL) that show LS-like molecular features but have no pathogenic mutations in germline MMR genes. We reported the distribution, characteristics, and regionality of LS and LL classified by LS identification study in Asian EC cases.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究の成果は参加した子宮体癌患者とその家族への検診勧奨として実地還元されている。考案されたスクリーニング戦略はLS患者とLS家系の適切な臨床識別を導いてゆく。本研究で得られた疫学的成果は、遺伝性子宮体がん診療ガイドライン構築の根拠として日本の医療と社会福祉に貢献する。LSと診断された患者本人と近親血縁者に対する予知的で効果的な検診と予防的医療の展開により、遺伝性癌の予防と早期発見を導き、関連癌の発生率と死亡率をともに低減させる。医療的介入の選択と集中により社会的損失を回避し、社会保障全体としての費用削減にも貢献する。
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Report
(4 results)
Research Products
(20 results)
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[Journal Article] Clinical characteristics of Lynch-like cases collaterally classified by Lynch syndrome identification strategy using universal screening in endometrial cancer2017
Author(s)
Takahashi K,Sato N,Sugawara T,Kato A,Sato T,Shimizu D,Tamura D,Kito M,Makino K,Shirasawa H,Miura H,Sato W,Kumazawa Y,Sato A,Terada Y
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Journal Title
Gynecologic Oncology
Volume: 147
Issue: 2
Pages: 388-395
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Isolated Loss of PMS2 Immunohistochemical Expression is Frequently Caused by Heterogenous MLH1 Promoter Hypermethylation in Lynch Syndrome Screening for Endometrial Cancer Patients.2016
Author(s)
Kato A,Sato N,Sugawara T,Takahashi K,Kito M,Makino K,Sato T,Shimizu D,Shirasawa H,Miura H,Sato W,Kumazawa Y,Sato A,Kumagai J,Terada Y
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Journal Title
Am J Surg Pathol
Volume: 40
Issue: 6
Pages: 770-776
DOI
NAID
Related Report
Peer Reviewed / Open Access
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