Alterations of DNA segments copy number and evaluation of the miRNAs expression pattern in patients with pediatric cancer associate to congenital defects

• Grant number: 09/02058-0
• Support type: Scholarships in Brazil - Post-Doctorate
• Effective date (Start): July 01, 2009
• Effective date (End): February 28, 2011
• Field of knowledge: Biological Sciences - Genetics
• Principal Investigator: Carla Rosenberg
• Grantee: Leonardo Pires Capelli
• Home Institution: Hospital A C Camargo. Fundação Antonio Prudente (FAP). São Paulo , SP, Brazil
• Associated research grant: 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes, AP.TEM

Abstract

Oncogenesis process generally involves several steps; therefore, childhood neoplasias must be rare and frequently be facilitated by the presence of genetic alterations already in the somatic lineage. Additionally, it was observed an increase of congenital abnormalities among children with cancer, suggesting that part of these genetic alterations must be involved both in cancer manifestations and in congenital abnormalities, maybe affecting two or more genes. Variations in the number of DNA segments (CNVs - Copy Number Variation) are related to congenital abnormalities and mental retardation, as well as human diversity, and might impact susceptibility to complexes diseases, such as cancer. Array-CGH technique has been used to identify DNA segments differing in number of copies between two genomes. CNVs investigation in patients with pediatric neoplasia associated with different congenital abnormalities is a novel and potentially informative approach, to uncover genes involved with cancer and/or associated phenotypes. Alterations in microRNAs (miRNAs) expression pattern have already been described in cancer situations. MiRNAs are small-non coding RNAs directly involved with gene regulation, and the expression pattern of some of them are possibly influenced by the number of specific CNVs.In this project, we plan to evaluate the CNVs and miRNAs expression patterns in a sample of patients with pediatric cancer associated to congenital defects.

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

VICTORINO KREPISCHI, ANA CRISTINA; CAPELLI, LEONARDO PIRES; SILVA, AMANDA GONCALVES; SOUZA DE ARAUJO, ERICA SARA; PEARSON, PETER LEES; HECK, BENJAMIN; LIMA DA COSTA, CECILIA MARIA; DE CAMARGO, BEATRIZ; ROSENBERG, CARLA. Large germline copy number variations as predisposing factor in childhood neoplasms. FUTURE ONCOLOGY, v. 10, n. 9, p. 1627-1633, JUL 2014. Web of Science Citations: 2.