Identification of genetic variants related to cancer predisposition in cohort of p...
| Full text | |
| 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]
Total Authors: 9
|
| 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
Total Affiliations: 5
|
| 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 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 |