SELECTION AND PURIFICATION OF SAMPLES FOR ANALYTICAL VALIDATION OF DIAGNOSTIC PANEL

• Grant number: 24/08204-9
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: July 01, 2024
• End date: December 31, 2025
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Janete Maria Cerutti
• Grantee: Rillary Fialho de Freitas
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil

Abstract

The various methods available for the pre-surgical diagnosis of thyroid nodules are still insufficient to accurately classify all thyroid nodules as benign or malignant. Currently, 30% of nodules subjected to fine-needle aspiration biopsy (FNAB) have an indeterminate cytological diagnosis [i.e., classified as Bethesda III, IV, or V], which can lead to unnecessary surgeries [i.e., lobectomy or total thyroidectomy]. This diagnostic inaccuracy, therefore, is responsible for avoidable costs, compromised patient quality of life, and potentially delayed appropriate treatment for patients who should undergo thyroidectomy for thyroid cancer. It is in the public interest to mitigate this issue. To this end, our group has designed a genetic panel capable of detecting various genetic variants that, according to previous research conducted by several group members, correspond to genomic regions and genetic variants associated with the genesis and progression of thyroid tumors and represent the mixed genetic profile of the Brazilian population. This project aims to select samples for the analytical validation of this personalized panel for the diagnosis and prognosis of thyroid nodules, perform DNA and RNA isolation, and sample qualification and quantification. These samples will then be used to create libraries that will be sequenced using the Illumina platform (NexSeq 2000). This project is funded by the Brazilian Ministry of Health and CNPq (CNPq/MS-SCTIE-DECIT).Keywords: Analytical Validation, Thyroid, Diagnostic Panel, Cancer