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Identification of genes predisposing to adrenocortical carcinomas and evaluation of global expression profiles and genomic alterations in patients with Li-Fraumeni Syndrome

Grant number: 15/04202-2
Support Opportunities:Scholarships in Brazil - Doctorate
Effective date (Start): July 01, 2015
Effective date (End): December 31, 2016
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Acordo de Cooperação: Coordination of Improvement of Higher Education Personnel (CAPES)
Principal Investigator:Maria Paula Curado
Grantee:Fernanda Paschoal Fortes
Host Institution: A C Camargo Cancer Center. Fundação Antonio Prudente (FAP). São Paulo , SP, Brazil


Li-Fraumeni syndrome (LFS) is characterized by the inherited predisposition to cancer, high risk of developing tumors at an early age and multiple primary tumors. LFS is an autosomal dominant disease and germline TP53 mutations were recognized as the main molecular mechanism responsible for the syndrome. In Brazil, LFS is present in 0.3% of the South and Southeastern population due to the occurrence of a founder mutation, the p.R337H TP53. This mutation was initially described as tumor specific, predisposing to pediatric adrenocortical carcinoma (ADR). ADR is a rare neoplasm, but it is estimated that in South and Southeast of Brazil, the incidence of pediatric ADR is 10-15 times greater than what is observed in other parts of the world, a fact possibly linked to the presence of the p.R337H mutation. Previous studies from our group found that patients with the mutation p.R337H have a distinctive gene expression profile when compared to non-carriers. To date, the factors that lead to the development of ADR in some children while others remain asymptomatic have not been elucidated and only the presence of the mutation may not be sufficient for tumor appearance. This project aims to evaluate the transcripts expression profiles by Human transcriptome platform Array (HTA) of Affymetrix and evaluate gains and losses by CytoScan genomic platform in approximately 48 samples from patients with adrenocortical carcinoma with and without the mutation p.R337H. The samples will be provided from various referral centers for cancer research in the country. The main goal of this study is to identify other genetic changes that may be associated with the manifestation of ADR in p.R337H carriers. The detection and definition of new genetic changes will improve our knowledge about LFS and provide a genotype-phenotype correlation that may be involved in the occurrence of ADR in LFS. (AU)

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