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Platform: liquid biopsy for melanomas

Grant number: 18/14468-8
Support type:Regular Research Grants
Duration: May 01, 2019 - July 31, 2021
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Vinicius de Lima Vazquez
Grantee:Vinicius de Lima Vazquez
Home Institution: Hospital do Câncer de Barretos. Fundação Pio XII (FP). Barretos , SP, Brazil
Assoc. researchers: Ana Carolina Laus ; Rui Manuel Vieira Reis
Associated scholarship(s):20/00176-5 - Platform - liquid biopsy for melanomas, BP.TT
19/13390-8 - PLATFORM: liquid biopsy for melanomas, BP.TT


Melanoma accounts for more than 90% of skin cancer deaths. BRAF, NRAS and TERT promoter mutations, together, affect more than two thirds of the melanomas. Screening for BRAF mutations in tumor tissue is important for therapeutic decision and prediction of response to target therapy. Monitoring of metastatic disease using this marker necessitates the availability of tumor sample. Liquid biopsy is a promising method of detecting DNA fragments in body fluids. Implementing a minimally invasive method in a rapidly progressing disease could decrease the number of diagnostic exams, identify patients with neoplastic progression and select a population that would benefit from targeted therapy. The objective of this study is to standardize the Digital PCR technique (dPCR) and to determine the sensitivity and specificity of the ctDNA (circulating DNA) technique for the detection of specific mutations (BRAF / NRAS / TERT) in plasma samples from patients with melanoma within a scenario of clinical practice. This is a prospective and cross-sectional study, in which patients with advanced melanoma with mutation of at least one of the genes of interest in the tissue will be selected previously the treatment, for evaluation of the mutations in the plasma and will be monitored quantitatively over time for the plasma mutation detection according to the evolution of the disease. In conclusion, the results of this study may establish a simplified method of monitoring the presence of metastatic disease for melanoma patients, for becoming a powerful diagnostic tool. (AU)

Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
MARCZYNSKI, GABRIELLA TAQUES; LAUS, ANA CAROLINA; DOS REIS, MARIANA BISARRO; REIS, RUI MANUEL; VAZQUEZ, VINICIUS DE LIMA. Circulating tumor DNA (ctDNA) detection is associated with shorter progression-free survival in advanced melanoma patients. SCIENTIFIC REPORTS, v. 10, n. 1 OCT 29 2020. Web of Science Citations: 0.

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