title: Large germline copy number variations as predisposing factor in childhood neoplasms.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  Our results suggest that constitutive CNVs contribute to the etiology of pediatric neoplasms, revealing new candidate genes for tumorigenesis.
authors.affiliation: International Research Center, A C Camargo Cancer Center, São Paulo, São Paulo, Brazil.
authors.forename: Ana Cristina Victorino
authors.initials: AC
authors.lastname: Krepischi
authors.forename: Leonardo Pires
authors.initials: LP
authors.lastname: Capelli
authors.forename: Amanda Gonçalves
authors.initials: AG
authors.lastname: Silva
authors.forename: Érica Sara Souza
authors.initials: ÉS
authors.lastname: de Araújo
authors.forename: Peter Lees
authors.initials: PL
authors.lastname: Pearson
authors.forename: Benjamin
authors.initials: B
authors.lastname: Heck
authors.forename: Cecília Maria Lima
authors.initials: CM
authors.lastname: da Costa
authors.forename: Beatriz
authors.initials: B
authors.lastname: de Camargo
authors.forename: Carla
authors.initials: C
authors.lastname: Rosenberg
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009369:Neoplasms / Q000235:genetics*
keywords: cancer susceptibility; chromosome imbalances; copy number variations; genomic microarray; germline CNV; pediatric cancer