Construction of mutation analysis pipelines for identifying novel cancer genes

• Project/Area Number: 25830139
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Medical genome science
• Research Institution: The University of Tokyo
• Principal Investigator: UENO Toshihide 東京大学, 医学(系)研究科(研究院), 助教 (40381446)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000); Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: バイオインフォマティクス / 次世代シークエンサー / 変異解析

Outline of Final Research Achievements

To elucidate genomic mutation in cancer, we developed computer pipelines which analyzed data provided in a next-generation sequencer. For data of whole-exome sequencing and RNA sequencing, we were able to create the mutation profile list of various cancer tumors and succeeded in identification of novel cancer genes. For example, our pipeline results showed the identification of the genes which became the mechanism of leukemic evolution of donor-derived cells after allogeneic stem cell transplantation.

Research Products

• [Journal Article] Recurrent CDC25C mutations drive malignant transformation in FPD/AML (2014)
  • Author(s): Yoshimi A, Toya T, Kawazu M, Ueno T, Tsukamoto A, Iizuka H, Nakagawa M, Nannya Y, Arai S, Harada H, Usuki K, Hayashi Y, Ito E, Kirito K, Nakajima H, Ichikawa M, Mano H, Kurokawa M
  • Journal Title: Nature communications Volume: 5 Issue: 1 Pages: 4770-4770
  • DOI: 10.1038/ncomms5770
  • Peer Reviewed / Open Access
• [Journal Article] Cancer-associated missense mutations of caspase-8 activate nuclear factor-κB signaling (2013)
  • Author(s): Ando M, Kawazu M, Ueno T, Fukumura K, Yamato A, Soda M, Yamashita Y, Choi YL, Yamasoba T, Mano H.
  • Journal Title: Cancer Sci. Volume: 104(8) Issue: 8 Pages: 1002-8
  • DOI: 10.1111/cas.12191
  • Peer Reviewed
• [Journal Article] STK10 missense mutations associated with anti-apoptotic function (2013)
  • Author(s): Fukumura K, Yamashita Y, Kawazu M, Sai E, Fujiwara S, Nakamura N, Takeuchi K, Ando M, Miyazono K, Ueno T, Ozawa K, Mano H.
  • Journal Title: Oncol Rep. Volume: 30(4) Issue: 4 Pages: 1542-8
  • DOI: 10.3892/or.2013.2605
  • Peer Reviewed