Exome sequencing of sebaceous carcinoma of the eyelid
| Project/Area Number |
18K16942
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 56060:Ophthalmology-related
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| Research Institution | Kyushu University |
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Principal Investigator |
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Project Status |
Completed (Fiscal Year 2020)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2020: ¥260,000 (Direct Cost: ¥200,000、Indirect Cost: ¥60,000)
Fiscal Year 2019: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2018: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | 眼瞼脂腺癌 / がんゲノム / エクソームシークエンス / 脂腺癌 / エクソーム / 体細胞変異 / 悪性腫瘍 |
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| Outline of Final Research Achievements |
A total of 49 Japanese patients with sebaceous carcinomas of the eyelid participated in the study. DNA was extracted for exome sequencing from both tumor tissues and blood samples obtained from 38 patients. As a result of the exome sequence analysis, we found that three previously reported genes were frequently mutated in our Japanese samples. We identified a novel gene that was mutated in approximately 20% of tumors. These results confirm that sebaceous carcinomas of the eyelid in the Japanese population have somatic mutations which have been previously reported in the studies of non-Japanese patients, and that major sebaceous carcinoma-related genes are shared across populations.
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| Academic Significance and Societal Importance of the Research Achievements |
眼科領域の悪性腫瘍は非常に稀少であり、がんゲノム解析はほとんどの悪性腫瘍で進んでいないのが現状である。本研究は、眼科領域で比較的頻度が高く致死性の悪性腫瘍である眼瞼脂腺癌患者38例を対象に網羅的ながんゲノム解析を行ったものであり、今後の眼瞼悪性腫瘍におけるがんゲノム診療の推進に貢献することが期待される。
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Report
(4 results)
Research Products
(4 results)
