Identification of susceptible genes in familial pancreatic cancer in Japan
Project/Area Number |
24390090
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Research Category |
Grant-in-Aid for Scientific Research (B)
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Allocation Type | Partial Multi-year Fund |
Section | 一般 |
Research Field |
Human pathology
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Research Institution | Tokyo Women's Medical University |
Principal Investigator |
FURUKAWA Toru 東京女子医科大学, 医学部, 教授 (30282122)
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Co-Investigator(Kenkyū-buntansha) |
SHIMIZU Kyoko 東京女子医科大学, 医学部, 准教授 (90187451)
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Co-Investigator(Renkei-kenkyūsha) |
FURUSE Junji 杏林大学, 医学部, 教授 (10501869)
SUGIYAMA Masanori 杏林大学, 医学部, 教授 (20192825)
YAMAMOTO Masakazu 東京女子医科大学, 医学部, 教授 (60220498)
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Research Collaborator |
SAITO Kayoko 東京女子医科大学, 医学部, 教授 (90138834)
KAMATANI Naoyuki 東京女子医科大学, 医学部, 客員教授 (00114447)
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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 |
¥19,110,000 (Direct Cost: ¥14,700,000、Indirect Cost: ¥4,410,000)
Fiscal Year 2014: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
Fiscal Year 2013: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2012: ¥11,700,000 (Direct Cost: ¥9,000,000、Indirect Cost: ¥2,700,000)
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Keywords | 膵臓がん / 家族性腫瘍 / 全エクソン解析 / 次世代シーケンサー / 遺伝子 / DNA解析 / SNP / 人類遺伝 |
Outline of Final Research Achievements |
We examined 47 individuals in 22 families of Japanese familial pancreatic cancer kindred to identify susceptible germline variants by whole exome sequencing. Nonsynonymous single nucleotide variants, splice-site variants, insertions, and deletions that were rarely found or not found in the 1000 Genome or the Human Genetic Variation databases were collected. Known susceptible genes and genes identified as candidate pancreatic cancer genes in the mouse sleeping beauty experiment were selected. We found potentially susceptible germline variants in BRCA2, PALB2, PUM1, FARP1, FAM193A, CTNNA1, and MLL5. These germline variants may contribute to susceptibility to familial pancreatic cancer in Japan. We also examined acinar cell carcinoma cases by whole exome and found germline variants in BRCA2 and FAT genes with loss of the wild type allele in cancer tissues. Moreover, we determined clinicopathological and molecular characteristics of familial pancreatic cancer and its associated lesions.
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Report
(4 results)
Research Products
(18 results)
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[Journal Article] Whole exome sequencing reveals recurrent mutations in BRCA2 and FAT genes in acinar cell carcinomas of the pancreas.2015
Author(s)
Furukawa T, Sakamoto H, Takeuchi S, Mitra A, Kuboki Y, Yamamoto T, Hatori T, Yamamoto M, Sugiyama M, Ohike N, Yamaguchi H, Shimizu M, Shibata N, Shimizu K, Shiratori K.
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Journal Title
Scientific Reports
Volume: 5
Issue: 1
Pages: 8829-8829
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Pathologic evaluation and reporting of intraductal papillary mucinous neoplasms (IPMNs) of the pancreas and other tumoral intraepithelial neoplasms of pancreatobiliary tract: Recommendations of Verona consensus meeting.2015
Author(s)
Adsay NV, Mino-Kenudson M, Furukawa T, Basturk O, Zamboni G, Marchegiani G, Bassi C, Salvia R, Malleo G, Paiella S, Wolfgang CL, Matthaei H, G. Offerhaus J, Adham M, Bruno MJ, Reid M, Krasinskas A, Kloppel G, Ohike N, Tajiri T, Jang K-T, Roa JC, Allen P, Fernandez-del Castillo C, Jang J-Y, Klimstra DS, Hruban RH.
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Journal Title
Annals of Surgery
Volume: in press
Issue: 1
Pages: 162-177
DOI
Related Report
Peer Reviewed
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[Journal Article] Clinical importance of familial pancreatic cancer registry in Japan: a report from kick-off meeting at international symposium on pancreas cancer 2012.2013
Author(s)
Wada K, Takaori K, Traverso LW, Hruban RH, Furukawa T, Brentnall TA, Hatori T, Sano K, Takada T, Majima Y, Shimosegawa S.
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Journal Title
Journal of Hepato-Biliary-Pancreatic Science
Volume: 20
Issue: 6
Pages: 557-566
DOI
Related Report
Peer Reviewed
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[Presentation] Whole Exome Sequencing Uncovered Unexpected Recurrent Mutations in BRCA2 and FAT in Pancreatic Acinar Cell Carcinoma.2014
Author(s)
Furukawa T, Ameri M, Sakamoto H, Kuboki Y, Hatori T, Yamamoto M, Sugiyama M, Ohike N, Yamaguchi H, Shimizu M, Shibata N, Shimizu K, Shiratori K .
Organizer
45th Anniversary Meeting of American Pancreatic Association and Japan Pancreas Society
Place of Presentation
Kona, HI, USA
Year and Date
2014-11-05 – 2014-11-08
Related Report
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[Presentation] Increased Risk of Pancreatic Cancer in Patients with Intraductal Papillary Mucinous Neoplasms of the Pancreas and a Family History or Past History of Cancer of the Pancreas or Other Organs.2014
Author(s)
Kaise T, Shimizu K, Ajihara K, Akao J, Shioga T, Nagao K, Tahara J, Takayama Y, Shiratori K, Izumo W, Hatori T, Furukawa T.
Organizer
45th Anniversary Meeting of American Pancreatic Association and Japan Pancreas Society
Place of Presentation
Kona, HI, USA
Year and Date
2014-11-05 – 2014-11-08
Related Report
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[Presentation] Somatic mutations and aberrant expression of RNF43 are recurrently found in intraductal papillary mucinous neoplasms of the pancreas.2014
Author(s)
Sakamoto H, Kuboki Y, Hatori T, Yamamoto M, Sugiyama M, Shibata N, Shimizu K, Shiratori K, Furukawa T.
Organizer
105th Annual Meeting of American Association for Cancer Research
Place of Presentation
San Diego, CA, USA
Year and Date
2014-04-05 – 2014-04-09
Related Report
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