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Team “Genetics and development of nervous system tumors”


Brain tumors Main domain : Cellular & molecular neurosciences Subdomain :  Clinical & translational neurosciences

Emmanuelle Huillard & Marc Sanson’s team proposes to identify new mutations and biomarkers, and understand the development of brain tumors with four major aims:

  • To improve diagnosis and treatment by expanding their molecular database and feed new translational projects;
  • To characterize the function of newly identified mutations in gliomas by using the “mutation to function” pipeline successfully implemented by the team;
  • To characterize the cell intrinsic and environmental mechanisms governing brain tumor initiation and progression;
  • To develop new mouse and patient-derived models to identify actionable targets and new treatments.

Major publications

1. Touat M et al. Mechanisms and therapeutic implications of hypermutation in gliomas. Nature. 2020 Apr;580(7804):517-523.
2. Di Stefano AL et al. Clinical, Molecular and Radiomic Profile of Gliomas With FGFR3-TACC3 Fusions. Neuro Oncol 2020 May 15:noaa121. doi: 10.1093/neuonc/noaa121.
3. D’Angelo F et al. The molecular landscape of glioma in patients with Neurofibromatosis 1. Nat Med. 2019 Jan;25(1):176-187.
4. Idbaih A et al. Safety and Feasibility of Repeated and Transient Blood-Brain Barrier Disruption by Pulsed Ultrasound in Patients with Recurrent Glioblastoma. Clin Cancer Res. 2019 Jul 1;25(13):3793-3801.
5. Rosenberg S et al. A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas. Nat Commun. 2018 Jun 18;9(1):2371
6. Labreche K et al. Diffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci. Acta Neuropathol. 2018 May;135(5):743-755.
7. Peyre M, et al. Progestin-associated shift of meningioma mutational landscape. Ann Oncol 2018 Mar 1;29(3):681-686.
8. Frattini V et al. A metabolic function of FGFR3-TACC3 gene fusions in cancer. Nature. 2018 Jan 11;553(7687):222-227

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Team members

  • Agusti ALENTORN

    Clinician, MD, PhD, PH, AP-HP

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  • Ahmed IDBAIH

    Principal Investigator, MD, PhD, MCU-PH, Sorbonne University, AP-HP

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  • Franck BIELLE

    MD-PhD, Assistant Professor Principal Investigator, Sorbonne University, AP-HP

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  • Isabelle LEROUX

    Principal Investigator, PhD, CRCN, INSERM

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  • Karima MOKHTARI

    Clinician, MD, PH, AP-HP

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    Clinician, MD, PhD, PU-PH, Sorbonne University, AP-HP

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  • Matthieu PEYRE

    Clinician, MD,PhD,MCU-PH, Sorbonne University, AP-HP

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  • Mehdi TOUAT

    Principal Investigator, MD, PhD, MCU-PH, Sorbonne University, AP-HP

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    Principal Investigator, MD, PhD, PU-PH, Sorbonne University, AP-HP

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  • Michel MALLAT

    Director of Research at INSERM

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