Article
Large germline copy number variations as predisposing factor in childhood neoplasms.
Future oncology (London, England) - 1 Jan 2014
Krepischi Ana Cristina Victorino, Capelli Leonardo Pires, Silva Amanda Gonçalves, de Araújo Érica Sara Souza, Pearson Peter Lees, Heck Benjamin, da Costa Cecília Maria Lima, de Camargo Beatriz, Rosenberg Carla
Abstract excerpt
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...
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