Редактирование: TIAM1 (раздел)

==Publications==

{{medline-entry
|title=Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/22367537
|abstract=Neuroblastoma is a childhood tumour of the peripheral sympathetic nervous system. The pathogenesis has for a long time been quite enigmatic, as only very few gene defects were identified in this often lethal tumour. Frequently detected gene alterations are limited to [[MYCN]] amplification (20%) and [[ALK]] activations (7%). Here we present a whole-genome sequence analysis of 87 neuroblastoma of all stages. Few recurrent amino-acid-changing mutations were found. In contrast, analysis of structural defects identified a local shredding of chromosomes, known as chromothripsis, in 18% of high-stage neuroblastoma. These tumours are associated with a poor outcome. Structural alterations recurrently affected ODZ3, [[PTPRD]] and [[CSMD1]], which are involved in neuronal growth cone stabilization. In addition, [[ATRX]], [[TIAM1]] and a series of regulators of the Rac/Rho pathway were mutated, further implicating defects in neuritogenesis in neuroblastoma. Most tumours with defects in these genes were aggressive high-stage neuroblastomas, but did not carry [[MYCN]] amplifications. The genomic landscape of neuroblastoma therefore reveals two novel molecular defects, chromothripsis and neuritogenesis gene alterations, which frequently occur in high-risk tumours.
|mesh-terms=* Aging
* Chromosomes, Human
* Cluster Analysis
* DNA Helicases
* DNA Mutational Analysis
* Gene Expression Regulation, Neoplastic
* Genome, Human
* Growth Cones
* Guanine Nucleotide Exchange Factors
* Humans
* Mutation
* Neoplasm Staging
* Neurites
* Neuroblastoma
* Nuclear Proteins
* Prognosis
* T-Lymphoma Invasion and Metastasis-inducing Protein 1
* X-linked Nuclear Protein
* rac GTP-Binding Proteins
* rho GTP-Binding Proteins

|full-text-url=https://sci-hub.do/10.1038/nature10910
}}