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Naji, M. |
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Motta, Antonella |
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Aletan, Dirar |
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Mohamed, Tarek |
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Ertürk, Emre |
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Taccardi, Nicola |
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Kononenko, Denys |
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Petrov, R. H. | Madrid |
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Alshaaer, Mazen | Brussels |
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Bih, L. |
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Casati, R. |
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Muller, Hermance |
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Kočí, Jan | Prague |
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Šuljagić, Marija |
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Kalteremidou, Kalliopi-Artemi | Brussels |
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Azam, Siraj |
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Ospanova, Alyiya |
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Blanpain, Bart |
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Ali, M. A. |
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Popa, V. |
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Rančić, M. |
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Ollier, Nadège |
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Azevedo, Nuno Monteiro |
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Landes, Michael |
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Rignanese, Gian-Marco |
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Kim, C.
in Cooperation with on an Cooperation-Score of 37%
Topics
Publications (9/9 displayed)
- 2023Synthesis of novel LaCoO3/graphene catalysts as highly efficient peroxymonosulfate activator for the degradation of organic pollutants
- 2022Characterization of the Microstructure, Mechanical Properties and Corrosion Behaviour of Submicron WC-12Co Coatings Produced by CGS and HVAF Compared with Sintered Bulk Material
- 2020Electronic Structure and Optoelectronic Properties of Bismuth Oxyiodide Robust against Percent-Level Iodine-, Oxygen-, and Bismuth-Related Surface Defects
- 2018Characterisation of the diffusion properties of metal foam hybrid flow-fields for fuel cells using optical flow visualisation and X-ray computed tomography
- 2018Hundredfold Enhancement of Light Emission via Defect Control in Monolayer Transition-Metal Dichalcogenides
- 2012Electrical Resistance of Ag-TS-S(CH2)(n-1)CH3//Ga2O3/EGaln Tunneling Junctionscitations
- 2009Synthesis, characterization, and transistor response of tetrathia-[7]-helicene precursors and derivativescitations
- 2009Copy number variation at 1q21.1 associated with neuroblastoma.citations
- 2004ToF-SIMS studies of nanoporous PMSSQ materials: Kinetics and reactions in the processing of low-K dielectrics for ULSI applicationscitations
Places of action
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article
Copy number variation at 1q21.1 associated with neuroblastoma.
Abstract
Common copy number variations (CNVs) represent a significant source of genetic diversity, yet their influence on phenotypic variability, including disease susceptibility, remains poorly understood. To address this problem in human cancer, we performed a genome-wide association study of CNVs in the childhood cancer neuroblastoma, a disease in which single nucleotide polymorphism variations are known to influence susceptibility. We first genotyped 846 Caucasian neuroblastoma patients and 803 healthy Caucasian controls at approximately 550,000 single nucleotide polymorphisms, and performed a CNV-based test for association. We then replicated significant observations in two independent sample sets comprised of a total of 595 cases and 3,357 controls. Here we describe the identification of a common CNV at chromosome 1q21.1 associated with neuroblastoma in the discovery set, which was confirmed in both replication sets. This CNV was validated by quantitative polymerase chain reaction, fluorescent in situ hybridization and analysis of matched tumour specimens, and was shown to be heritable in an independent set of 713 cancer-free parent-offspring trios. We identified a previously unknown transcript within the CNV that showed high sequence similarity to several neuroblastoma breakpoint family (NBPF) genes and represents a new member of this gene family (NBPF23). This transcript was preferentially expressed in fetal brain and fetal sympathetic nervous tissues, and the expression level was strictly correlated with CNV state in neuroblastoma cells. These data demonstrate that inherited copy number variation at 1q21.1 is associated with neuroblastoma and implicate a previously unknown neuroblastoma breakpoint family gene in early tumorigenesis of this childhood cancer.