Identification of predisposition genes for the development of Non-Medullary Familial Thyroid Cancer

• Grant number: 24/18300-5
• Support Opportunities: Scholarships in Brazil - Program to Stimulate Scientific Vocations
• Start date: March 17, 2025
• End date: April 21, 2025
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Ana Tereza Ribeiro de Vasconcelos
• Grantee: Mariana Rocha Belizario
• Host Institution: Laboratório Nacional de Computação Científica (LNCC). Ministério da Ciência, Tecnologia e Inovação (Brasil). Petrópolis , SP, Brazil

Abstract

General Objective: Identify genetic variants associated with predisposition to familial non-medullary thyroid carcinoma (FNMTC) using the whole-exome sequencing (WES) strategy.Case Study: The selected family presents five first-degree relatives diagnosed with papillary thyroid carcinoma (PTC), with at least three individuals affected by PTC, in the absence of a history of radiation exposure, which is the essential criterion for diagnosing FNMTC. It has been suggested that in families with three or more affected members, the probability of the trait being familial is over 96%.