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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Large germline copy number variations as predisposing factor in childhood neoplasms

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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]
Total Authors: 9
[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
Total Affiliations: 5
Document type: Journal article
Source: FUTURE ONCOLOGY; v. 10, n. 9, p. 1627-1633, JUL 2014.
Web of Science Citations: 2

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 type: Scholarships in Brazil - Post-Doctorate
FAPESP's process: 08/57887-9 - National Institute of Oncogenomics
Grantee:Luiz Paulo Kowalski
Support type: Research Projects - Thematic Grants
FAPESP's process: 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes
Grantee:Carla Rosenberg
Support type: Research Projects - Thematic Grants
FAPESP's process: 13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center
Grantee:Mayana Zatz
Support type: Research Grants - Research, Innovation and Dissemination Centers - RIDC