Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma

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Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma

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Title: Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma
Author: Sausen, Mark; Leary, Rebecca J.; Jones, Siân; Wu, Jian; Reynolds, C. Patrick; Liu, Xueyuan; Blackford, Amanda; Parmigiani, Giovanni; Diaz, Luis A.; Papadopoulos, Nickolas; Vogelstein, Bert; Kinzler, Kenneth W.; Velculescu, Victor E.; Hogarty, Michael D.

Note: Order does not necessarily reflect citation order of authors.

Citation: Sausen, M., R. J. Leary, S. Jones, J. Wu, C. P. Reynolds, X. Liu, A. Blackford, et al. 2012. “Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma.” Nature genetics 45 (1): 12-17. doi:10.1038/ng.2493. http://dx.doi.org/10.1038/ng.2493.
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Abstract: Neuroblastomas are tumors of peripheral sympathetic neurons and are the most common solid tumor in children. To determine the genetic basis for neuroblastoma we performed whole-genome sequencing (6 cases), exome sequencing (16 cases), genome-wide rearrangement analyses (32 cases), and targeted analyses of specific genomic loci (40 cases) using massively parallel sequencing. On average each tumor had 19 somatic alterations in coding genes (range, 3–70). Among genes not previously known to be involved in neuroblastoma, chromosomal deletions and sequence alterations of chromatin remodeling genes, ARID1A and ARID1B, were identified in 8 of 71 tumors (11%) and were associated with early treatment failure and decreased survival. Using tumor-specific structural alterations, we developed an approach to identify rearranged DNA fragments in sera, providing personalized biomarkers for minimal residual disease detection and monitoring. These results highlight dysregulation of chromatin remodeling in pediatric tumorigenesis and provide new approaches for the management of neuroblastoma patients.
Published Version: doi:10.1038/ng.2493
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3557959/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:11717533
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