Large germline copy number variations as predisposing factor in childhood neoplasms

Author(s)

Victorino Krepischi, Ana Cristina ^{[1, 2]} ; Capelli, Leonardo Pires ^[1] ; Silva, Amanda Goncalves ^{[1, 2]} ; Souza de Araujo, Erica Sara ^[1] ; Pearson, Peter Lees ^[2] ; Heck, Benjamin ^{[3, 4]} ; Lima da Costa, Cecilia Maria ^[3] ; de Camargo, Beatriz ^{[3, 5]} ; Rosenberg, Carla ^[2]

Affiliation

^[1] AC Camargo Canc Ctr, Int Res Ctr, Sao Paulo - Brazil

^[2] Univ Sao Paulo, Dept Genet & Evolutionary Biol, Sao Paulo - Brazil

^[3] AC Camargo Canc Ctr, Dept Pediat, Sao Paulo - Brazil

^[4] EmbrioConsult, Sao Paulo - Brazil

^[5] Natl Canc Inst, Pediat Oncol Dept, Rio De Janeiro - Brazil

• Document type: Journal article
• Source: FUTURE ONCOLOGY; v. 10, n. 9, p. 1627-1633, JUL 2014.
• Web of Science Citations: 2

Abstract

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. (AU)

• FAPESP's process: 09/02058-0 - Alterations of DNA segments copy number and evaluation of the miRNAs expression pattern in patients with pediatric cancer associate to congenital defects.
• Grantee: Leonardo Pires Capelli
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• FAPESP's process: 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes
• Grantee: Carla Rosenberg
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 08/57887-9 - National Institute of Oncogenomics
• Grantee: Luiz Paulo Kowalski
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center
• Grantee: Mayana Zatz
• Support Opportunities: Research Grants - Research, Innovation and Dissemination Centers - RIDC