Ancestry study among families from Rio Grande do Norte with familial non-medullary thyroid cancer

• Grant number: 23/03852-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: June 01, 2023
• End date: May 31, 2024
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Janete Maria Cerutti
• Grantee: Natália Ardito Schimidt
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil

Abstract

Today, cancer is one of the main causes of death in the world and a barrier to increasing life expectancy, therefore, studies related to cancer are extremely important. According to INCA data, in the state of Rio Grande do Norte there is an incidence above the national average of thyroid gland neoplasms. Within such neoplasms is familial non-medullary thyroid carcinoma, which can be subdivided into syndromic (SFNMTC) and non-syndromic (NSFNMTC).Our group has analyzed families in the Rio Grande do Norte region with individuals identified with papillary thyroid carcinoma (PTC), the most prevalent cancer within the NSFNMTC. Whole Exome Sequencing (WES) analysis has allowed candidate genes to be identified, but the success of this analysis depends on other genetic study methods, such as the accurate construction of herodograms. This organizational chart representing ancestry makes it possible to establish kinship relationships, which are fundamental for identifying predisposition genes for a particular disease in a family.However, genealogical studies have not yet been carried out on affected families in the region, and therefore it is unknown whether there is any genealogical link between them. Ancestry brings a historical and demographic bias, crossing profiles on migrations and settlement, being beneficial to try to map diseases. Thus, this project intends to identify the existence of genealogical links between families from Rio Grande do Norte with individuals identified with CPT through the study of ancestry, aiming to documentally prove that families are correlated and may have, therefore, shared genetic components that explain the increased susceptibility to CPT.