Novel somatic and germline mutations in intracranial germ cell tumours

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 Suzuki, Ryo Nishikawa, Atsushi Natsume, Shunsuke Terasaka, Robert Dauser, William Whitehead, Adesina Adekunle, Jiayi Sun, Yi Qiao, Gábor Marth, Donna M. Muzny, Richard A. Gibbs, Suzanne M. Leal, David A. Wheeler () and Ching C. Lau ()
Additional contact information
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
Keita Terashima: Texas Children’s Cancer and Hematology Centers, Baylor College of Medicine
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

Nature, 2014, vol. 511, issue 7508, 241-245

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.

Date: 2014
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DOI: 10.1038/nature13296

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