| Project/Area Number |
24659399
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Respiratory organ internal medicine
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| Research Institution | Tohoku University |
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Principal Investigator |
KIKUCHI Toshiaki 東北大学, 医学(系)研究科(研究院), 非常勤講師 (10280926)
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| Co-Investigator(Renkei-kenkyūsha) |
MATSUBARA Yoichi , 国立成育医療研究センター, 所長 (00209602)
INOUE Akira 東北大学, 病院, 准教授 (70361087)
SAKAKIBARA Tomohiro 東北労災病院, 副部長 (80422111)
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| Research Collaborator |
TODE Naoki 東北大学, 病院, 医員
HIRANO Taizou 東北大学, 大学院医学系研究科, 非常勤講師
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2013: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2012: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
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| Keywords | 家族性癌 / エクソーム解析 |
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| Outline of Final Research Achievements |
Lung cancer is globally the leading cause of cancer death with the estimated number of the annual deaths as around 1.4 million. Cigarette smoking is a predominant etiological factor of lung carcinogenesis. Further attention has been paid to a growing number of lung carcinomas occurring in never-smokers, suggesting a biologically different disease with a genetic susceptibility. In this regard, the epidermal growth factor receptor (EGFR) gene mutation is more frequent in lung adenocarcinomas of never smokers. In this study, we acquired two 2-generational pedigrees containing more than 2 family members affected with lung adenocarcinoma with EGFR gene mutations, and performed exome capture and sequencing of whole-blood DNA. A de novo mutation was identified in lung cancer patients, but was not in two control subjects. The mutation alters the amino acid sequence, and confers dominant-negative activity that potentially underlies the pathogenesis of EGFR-mutated lung adenocarcinoma.
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