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Identification of susceptible genes in familial pancreatic cancer in Japan

Research Project

Project/Area Number 24390090
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypePartial Multi-year Fund
Section一般
Research Field Human pathology
Research InstitutionTokyo Women's Medical University

Principal Investigator

FURUKAWA Toru  東京女子医科大学, 医学部, 教授 (30282122)

Co-Investigator(Kenkyū-buntansha) SHIMIZU Kyoko  東京女子医科大学, 医学部, 准教授 (90187451)
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)
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)
Project Period (FY) 2012-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
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)
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.

Report

(4 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Annual Research Report
  • 2012 Annual Research Report
  • Research Products

    (18 results)

All 2015 2014 2013 2012

All Journal Article (7 results) (of which Peer Reviewed: 6 results,  Open Access: 1 results,  Acknowledgement Compliant: 2 results) Presentation (11 results) (of which Invited: 1 results)

  • [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.
    • Journal Title

      Scientific Reports

      Volume: 5 Issue: 1 Pages: 8829-8829

    • DOI

      10.1038/srep08829

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [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.
    • Journal Title

      Annals of Surgery

      Volume: in press Issue: 1 Pages: 162-177

    • DOI

      10.1097/sla.0000000000001173

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Molecular biomarkers for progression of intraductal papillary mucinous neoplasm of the pancreas.2015

    • Author(s)
      Kuboki Y, Shimizu K, Hatori T, Yamamoto M, Shibata N, Shiratori K, Furukawa T.
    • Journal Title

      Pancreas

      Volume: 44 Issue: 2 Pages: 227-235

    • DOI

      10.1038/modpathol.2014.98

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] The discrete nature and distinguishing molecular features of pancreatic intraductal tubulopapillary neoplasms and intraductal papillary mucinous neoplasms of the gastric type, pyloric gland variant.2013

    • Author(s)
      Yamaguchi H, Kuboki Y, Hatori T, Yamamoto M, Shimizu K, Shiratori K, Shibata N, Shimizu M, Furukawa T.
    • Journal Title

      The Journal of Pathology

      Volume: 231 Issue: 3 Pages: 335-341

    • DOI

      10.1002/path.4242

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Clinical importance of familial pancreatic cancer registry in Japan: A report from kick-off meeting at international symposium on pancreas cancer 20122013

    • Author(s)
      Wada K, Takaori K, Traverso LW, Hruban RH, Furukawa T, Brentnall TA, Hatori T, Sano K, Takada T, Majima Y, Shimosegawa S.
    • Journal Title

      Journal of Hepato-Biliary-Pancreatic Science

      Volume: 20 Issue: 6 Pages: 557

    • DOI

      10.1007/s00534-013-0611-5

    • NAID

      10031194610

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 家族性膵臓癌の病理学的特徴2013

    • Author(s)
      古川徹
    • Journal Title

      胆と膵

      Volume: 34 Pages: 529-532

    • Related Report
      2013 Annual Research Report
  • [Journal Article] Targeting of MAPK-associated molecules identifies SON as a prime target to attenuate the proliferation and tumorigenicity of pancreatic cancer cells.2012

    • Author(s)
      Furukawa T, Tanji E, Kuboki Y, Hatori T, Yamamoto M, Shimizu K, Shibata N, Shiratori K.
    • Journal Title

      Molecular Cancer

      Volume: 11 Issue: 1 Pages: 88-88

    • DOI

      10.1186/1476-4598-11-88

    • NAID

      120005521970

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [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
      2014 Annual Research Report
  • [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
      2014 Annual Research Report
  • [Presentation] Molecular pathology of the familial pancreatic cancer in Japan.2014

    • Author(s)
      Furukawa T, Shimizu K, Furuse J, Sugiyama M, Shiratori K.
    • Organizer
      73rd Annual Meeting of the Japanese Cancer Association
    • Place of Presentation
      横浜市
    • Year and Date
      2014-09-25 – 2014-09-27
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] 膵管内乳頭粘液性腫瘍(IPMN)におけるRNF43体細胞変異の臨床病理学的意義2014

    • Author(s)
      坂本仁美,久保木友子,羽鳥隆,山本雅一、杉山政則、柴田亮行、清水京子、白鳥敬子、古川徹
    • Organizer
      第45回日本膵臓学会大会
    • Place of Presentation
      北九州市
    • Year and Date
      2014-07-11 – 2014-07-12
    • Related Report
      2014 Annual Research Report
  • [Presentation] Somatic mutations of RNF43 are associated with its aberrant expression and GNAS mutations 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
      The 46th meeting of the European Pancreatic Club and the International Association of Pancreatology
    • Place of Presentation
      Southampton, UK
    • Year and Date
      2014-06-24 – 2014-06-28
    • Related Report
      2014 Annual Research Report
  • [Presentation] 膵腺房細胞癌はBRCA2, FAT遺伝子異常を持つ2014

    • Author(s)
      古川徹、坂本仁美,杉山政則、羽鳥隆,山本雅一、柴田亮行、清水京子、白鳥敬子
    • Organizer
      第103回日本病理学会総会
    • Place of Presentation
      広島市
    • Year and Date
      2014-04-24 – 2014-04-26
    • Related Report
      2014 Annual Research Report
  • [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
      2014 Annual Research Report
  • [Presentation] 膵癌前駆病変の分子病理学的性質2013

    • Author(s)
      古川徹
    • Organizer
      第102回日本病理学会総会
    • Place of Presentation
      札幌
    • Related Report
      2013 Annual Research Report
  • [Presentation] Pathology of familial pancreatic cancer2012

    • Author(s)
      Furukawa T
    • Organizer
      Pancreas Cancer 2012
    • Place of Presentation
      京都国際会議場(京都府)(招待講演)
    • Related Report
      2012 Annual Research Report
  • [Presentation] Clinicopathological significance of molecular aberrations in G-protein coupled receptor pathway in intraductal papillary mucinous neoplasms of the pancreas2012

    • Author(s)
      Kuboki Y, Shimizu K, Shiratori K, Hatori T, Yamamoto M, Shibata N, Furukawa T
    • Organizer
      Joint Meeting of American Pancreatic Association and International Association of Pancreatology
    • Place of Presentation
      Miami, FL, USA
    • Related Report
      2012 Annual Research Report
  • [Presentation] Usefulness of cell block cytology for preoperative grading and typing of IPMN2012

    • Author(s)
      Shimizu K, Monzen M, Nagao K, Tahara J, Takayama Y, Oshima N, Hatori T, Furukawa T. Shiratori K
    • Organizer
      Joint Meeting of American Pancreatic Association and International Association of Pancreatology
    • Place of Presentation
      Miami, FL, USA
    • Related Report
      2012 Annual Research Report

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Published: 2012-04-24   Modified: 2019-07-29  

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