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Investigation of genetic causes associated with sarcomas development in young age patients

Grant number: 18/17027-2
Support Opportunities:Scholarships in Brazil - Master
Effective date (Start): July 01, 2019
Effective date (End): June 30, 2020
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Giovana Tardin Torrezan
Grantee:Nathália de Angelis de Carvalho
Host Institution: A C Camargo Cancer Center. Fundação Antonio Prudente (FAP). São Paulo , SP, Brazil


Recent advances in genomics have enabled the recognition of nearly a hundred new cancer predisposing genes. Although genetic screening in these genes is currently well established for the most common hereditary tumors, there are a number of rare tumors, including sarcomas, which may be associated with hereditary cancer syndromes but whose mutation frequencies in these genes are still unknown. A recent study identified that 20% of patients with sarcomas had pathogenic variants in 72 genes associated with increased cancer risks, including genes for which there were no previous reports of higher risk for this type of tumor. Thus, the present study aims to: define the frequency of potentially pathogenic rare germline variants in known cancer predisposing genes in children, adolescents and young adults (<40 years) with sarcomas; to describe the clinical patterns of tumors of index patients and their relatives in families with rare variants. For this, we will screen 100 young patients diagnosed with sarcoma for the presence of germline variants in 106 genes of high to moderate penetrance for hereditary tumors using Next-Generation Sequencing. We expect to contribute with new evidences of the frequency and spectrum of mutations in these genes in the Brazilian population with distinct sarcomas, cooperating with the definition of effective and adequate screening strategies for these patients. (AU)

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