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RET Gene Sequencing: study of ancestry, ethnic-geographical aspects and econometrics of the implementation of genetic diagnosis in patients with suspected Multiple Endocrine Neoplasia Type 2 in Brazil

Grant number: 23/03161-7
Support Opportunities:Scholarships in Brazil - Doctorate (Direct)
Effective date (Start): September 01, 2023
Effective date (End): February 28, 2025
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Lucas Leite Cunha
Grantee:Victor Alexandre dos Santos Valsecchi
Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
Associated research grant:21/02752-6 - Multiple Endocrine Neoplasia type 2 (MEN 2) and Medullary Thyroid Carcinoma (TCM): new issues in developmental biology, genetics, immunology, epidemiology, mechanisms of disease and clinical management, AP.TEM


Multiple Endocrine Neoplasia type 2 (MEN2) is an autosomal dominant genetic disorder caused by germline mutations in the RET gene. Access to RET gene testing made it possible to improve the diagnosis and precision in the management of patients with MEN2. However, there are no studies that have critically evaluated the evolution and other factors involved in the implementation of the RET gene molecular test in patients with medullary thyroid carcinoma (MTC) - the main clinical suspicion for MEN2. The objective of this research is to evaluate the implementation of this genetic test for the diagnosis of patients and relatives and to identify the molecular ancestry of transfers of this gene in Brazil. This study is part of a thematic project (FAPESP, 2021/02752-6) that directs our efforts towards the continuous improvement of the Brazilian Consortium of Multiple Endocrine Neoplasia (BRASMEN). For the evaluation of molecular ancestry and search for a possible founder effect or point of coalescence, we will analyze haplotypes of the genomic DNA of patients with MTC, using microsatellite markers that flank RET regions of interest, as we have done in previous works by our group. At the same time, we will conduct a scoping review to map the available evidence on offering RET sequencing in suspected MEN2, with the following investigation structure: (P) population: people diagnosed with MTC; (C) concept: RET gene sequencing; (C) context: therapeutic management and prognosis. A broad and sensitive search will be carried out in the literature through structured strategies, with relevant descriptors and meanings, in addition to a search in preprints and photographic literature. Data from included studies will be extracted independently by two authors and discrepancies in information will be resolved by consensus, in consultation with a third author. The protocol will be registered prospectively and the Joanna Briggs Institute recommendations will be followed for the planning and development of the scoping review. (AU)

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