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Barr EK, Applebaum MA. Genetic Predisposition to Neuroblastoma. Children (Basel). 2018;5(9)doi: 10.3390/children5090119.
Barr, E. K., & Applebaum, M. A. (2018). Genetic Predisposition to Neuroblastoma. Children (Basel, Switzerland), 5(9), . https://doi.org/10.3390/children5090119
Barr, Erin K, and Applebaum, Mark A. "Genetic Predisposition to Neuroblastoma." Children (Basel, Switzerland) vol. 5,9 (2018). doi: https://doi.org/10.3390/children5090119
Barr EK, Applebaum MA. Genetic Predisposition to Neuroblastoma. Children (Basel). 2018 Aug 31;5(9). doi: 10.3390/children5090119. PMID: 30200332; PMCID: PMC6162470.
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Children (Basel). 2018 Aug 31;5(9). doi: 10.3390/children5090119.

Genetic Predisposition to Neuroblastoma.

Children (Basel, Switzerland)

Erin K Barr, Mark A Applebaum

Affiliations

  1. Department of Pediatrics, University of Chicago, Chicago, IL 60637, USA. [email protected].
  2. Committee on Clinical Pharmacology and Pharmacogenomics, University of Chicago, Chicago, IL 60637, USA. [email protected].
  3. Department of Pediatrics, University of Chicago, Chicago, IL 60637, USA. [email protected].
  4. Committee on Clinical Pharmacology and Pharmacogenomics, University of Chicago, Chicago, IL 60637, USA. [email protected].

PMID: 30200332 PMCID: PMC6162470 DOI: 10.3390/children5090119

Abstract

Neuroblastoma is the most common solid tumor in children under the age of one. It displays remarkable phenotypic heterogeneity, resulting in differences in outcomes that correlate with clinical and biologic features at diagnosis. While neuroblastoma accounts for approximately 5% of all cancer diagnoses in pediatrics, it disproportionately results in about 9% of all childhood deaths. Research advances over the decades have led to an improved understanding of neuroblastoma biology. However, the initiating events that lead to the development of neuroblastoma remain to be fully elucidated. It has only been recently that advances in genetics and genomics have allowed researchers to unravel the predisposing factors enabling the development of neuroblastoma and fully appreciate the interplay between the genetics of tumor and host. In this review, we outline the current understanding of familial neuroblastoma and highlight germline variations that predispose children to sporadic disease. We also discuss promising future directions in neuroblastoma genomic research and potential clinical applications for these advances.

Keywords: genome-wide association study (GWAS); germline; neuroblastoma; predisposition

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