Mutation analysis of MUTYH in Japanese colorectal adenomatous polyposis patients
| Project/Area Number |
23591977
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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 |
Digestive surgery
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| Research Institution | Tokyo Institute of Technology (2013-2014)
Japanese Foundation for Cancer Research (2011-2012) |
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Principal Investigator |
TAKI Keiko 東京工業大学, 資源化学研究所, 産学官連携研究員 (50332284)
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| Co-Investigator(Renkei-kenkyūsha) |
ARAI Masami 公益財団法人がん研究会有明病院, 遺伝子診療部, 部長 (20232027)
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| Research Collaborator |
佐藤 友理 がん研究会有明病院, 遺伝子診療部, 助手
芦原 有美 がん研究会有明病院, 遺伝子診療部, 認定遺伝カウンセラー
喜多 瑞穂 がん研究会有明病院, 遺伝子診療部, 認定遺伝カウンセラー
上野 雅資 がん研究会有明病院, 消化器センター, 下部消化管担当部長
五十嵐 正広 がん研究会有明病院, 消化器センター, 内視鏡診断部部長
福長 洋介 がん研究会有明病院, 消化器センター, 医長
長山 聡 がん研究会有明病院, 消化器センター, 医長
田島 郁文 医療法人社団寿山会田島病院, 院長
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| Project Period (FY) |
2011-04-28 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2013: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2012: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2011: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
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| Keywords | MUTYH / 家族性大腸腺腫症 / FAP / MAP / 大腸ポリポーシス / ミスマッチ修復 / 大腸癌 / MYH / 多発大腸癌 |
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| Outline of Final Research Achievements |
Some of colorectal polyposis patients without detectable germline APC mutations are considered to carry germline mutations in the MUTYH gene. Because limited information is available on MUTYH variants and their contribution to polyposis, we investigated whether 14 polyposis patients without detectable germline APC mutations carried germline MUTYH mutations. Somatic APC mosaic mutations were detected in three polyposis cases (21%) and no biallelic germline MUTYH mutations were detected. Three patients had an IVS10-2A>G MUTYH heterozygous mutation. We investigated the allele frequency with 115 controls over 70 years of age without cancer history. The allele frequency was 0.022 (5 variants). The odds ratio of IVS10-2A>G was 5.4 (95% confidence interval: 1.22-24.0). Though our sample size is too small to make a definitive conclusion, the odds ratio was significantly higher in case group. Further analysis was required to assess the risk of variant for colorectal polyposis.
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Report
(5 results)
Research Products
(8 results)
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[Journal Article] A Case of a Child with an APC Pathogenic Mutation, Aberrant Expression of Splice Variants and Positive Family History of FAP2014
Author(s)
Keiko Taki, Yasuyoshi Sato, Yuri Sato, Yuumi Ashihara, Akiko Chino, Masahiro Igarashi, Koichiro Sato, Tomoyuki Kitagawa, Iruru Maetani, Chieko Nemoto, Kiyoto Nasuno, Takashi Sekine and Masami Arai
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Journal Title
Japanese Journal of Clinical Oncology
Volume: 44
Pages: 602-606
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Book] 癌の遺伝医療2015
Author(s)
新井正美ほか（宮口健, 三木義男, 福嶋義光, 芦原有美, 西村誠一郎, 岩瀬晴子, ・・・,瀧景子, ・・)
Total Pages
256
Publisher
南江堂
Related Report
