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Novel somatic and germline mutations in intracranial germ cell tumours

Author

Listed:
  • Linghua Wang

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Shigeru Yamaguchi

    (Texas Children’s Cancer and Hematology Centers, Baylor College of Medicine)

  • Matthew D. Burstein

    (Structural and Computational Biology and Molecular Biophysics Program, Baylor College of Medicine
    Medical Scientist Training Program, Baylor College of Medicine)

  • Keita Terashima

    (Texas Children’s Cancer and Hematology Centers, Baylor College of Medicine
    National Center for Child Health and Development, Tokyo, 157-8535, Japan)

  • Kyle Chang

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Ho-Keung Ng

    (Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong)

  • Hideo Nakamura

    (Kumamoto University, Kumamoto, 860-0862, Japan)

  • Zongxiao He

    (Center for Statistical Genetics, Baylor College of Medicine)

  • Harshavardhan Doddapaneni

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Lora Lewis

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Mark Wang

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Tomonari Suzuki

    (Saitama Medical University, Saitama, 350-0495, Japan)

  • Ryo Nishikawa

    (Saitama Medical University, Saitama, 350-0495, Japan)

  • Atsushi Natsume

    (Nagoya University, Nagoya, 466-8550, Japan)

  • Shunsuke Terasaka

    (Hokkaido University, Hokkaido Prefecture, 060-0808, Japan)

  • Robert Dauser

    (Baylor College of Medicine)

  • William Whitehead

    (Baylor College of Medicine)

  • Adesina Adekunle

    (Baylor College of Medicine)

  • Jiayi Sun

    (Medical Scientist Training Program, Baylor College of Medicine)

  • Yi Qiao

    (Boston College)

  • Gábor Marth

    (Boston College)

  • Donna M. Muzny

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Richard A. Gibbs

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Suzanne M. Leal

    (Center for Statistical Genetics, Baylor College of Medicine)

  • David A. Wheeler

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Ching C. Lau

    (Texas Children’s Cancer and Hematology Centers, Baylor College of Medicine
    Medical Scientist Training Program, Baylor College of Medicine
    Dan L. Duncan Cancer Center, Baylor College of Medicine)

Abstract

Intracranial germ cell tumours are rare tumours affecting mainly male adolescents, mainly in Asia; here the authors identify frequent mutations in the KIT/RAS and AKT/mTOR signalling pathways as well as rare germline variants in JMJD1C, suggesting potential therapeutic strategies focusing on the inhibition of KIT/RAS activation and the AKT1/mTOR pathway.

Suggested Citation

  • Linghua Wang & Shigeru Yamaguchi & Matthew D. Burstein & Keita Terashima & Kyle Chang & Ho-Keung Ng & Hideo Nakamura & Zongxiao He & Harshavardhan Doddapaneni & Lora Lewis & Mark Wang & Tomonari Suzuk, 2014. "Novel somatic and germline mutations in intracranial germ cell tumours," Nature, Nature, vol. 511(7508), pages 241-245, July.
    • Handle: RePEc:nat:nature:v:511:y:2014:i:7508:d:10.1038_nature13296
    DOI: 10.1038/nature13296
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    Citations

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    Cited by:

    1. Lin Xu & Joshua L. Pierce & Angelica Sanchez & Kenneth S. Chen & Abhay A. Shukla & Nicholas J. Fustino & Sarai H. Stuart & Aditya Bagrodia & Xue Xiao & Lei Guo & Mark D. Krailo & Furqan Shaikh & Debor, 2023. "Integrated genomic analysis reveals aberrations in WNT signaling in germ cell tumors of childhood and adolescence," Nature Communications, Nature, vol. 14(1), pages 1-12, December.
    2. Kyuto Sonehara & Yui Kimura & Yoshiko Nakano & Tatsuya Ozawa & Meiko Takahashi & Ken Suzuki & Takashi Fujii & Yuko Matsushita & Arata Tomiyama & Toshihiro Kishikawa & Kenichi Yamamoto & Tatsuhiko Nait, 2022. "A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors," Nature Communications, Nature, vol. 13(1), pages 1-9, December.

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