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Updated: Apr 25, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Large germline copy number variations as predisposing factor in childhood neoplasms
Ana Cristina Victorino Krepischi1, Leonardo Pires Capelli, Amanda Gonçalves Silva
1International Research Center, A C Camargo Cancer Center, São Paulo, São Paulo, Brazil.
Aims:
Constitutive genetic factors are believed to predispose to cancer in children. This study investigated the role of rare germline copy number variations (CNVs) in pediatric cancer predisposition.
Patients & Methods:
A total of 54 patients who developed cancer in infancy were screened by array-CGH for germline CNVs.
Results:
In total, 12 rare CNVs were detected, including a Xq27.2 triplication, and two >1.8 Mb deletions: one of them at 13q31, containing only RNA genes, and another at 3q26.33-q27.1, in a patient with congenital malformations. Detected rare CNVs are significantly larger than those identified in controls, and encompass genes never implicated in cancer predisposition.
Conclusion:
Our results suggest that constitutive CNVs contribute to the etiology of pediatric neoplasms, revealing new candidate genes for tumorigenesis.
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