MOLECULAR DIAGNOSIS FOR HEREDITARY BREAST CANCER SYNDROMES IN SUS: A NEW PERSPECTIVE FOR THE STATE OF GOIÁS. UFG/SES.

Silveira-Lacerda, E.P. (Universidade Federal de Goiás), Gouveia, R.M. (Universidade Federal de Goiás), Lima, A.P (Universidade Federal de Goiás), Faustino, P.F. (Universidade Federal de Goiás), Teixeira, T.B. (Universidade Federal de Goiás), Junior, H.F.

Department of Genetic, Institute of Biological Sciences, Federal University of Goias – UFG, GoiâniaBreast cancer is the second most frequent type of cancer in the world and it´s the main cause of death in women today. It is of the total cases of breast cancer estimated that 5% to 10% are hereditary. Mutations in the BRCA1 /2 genes are responsible for 50% of cases of hereditary breast cancer, causing hereditary breast and ovarian cancer syndrome (HBOC). In addition to the BRCA1/2 genes, several genes for multi-cancers syndromes including breast cancer have been identified, including the TP53 gene that causes Li-Fraumeni syndrome. Currently, these syndromes can be diagnosed through the combination of DNA sequencing and MLPA (Multiplex Ligation-dependent Probe Amplification) techniques, however, these are expensive methods not offered by SUS (Health Unic System), making it difficult to access the general population. The present study aims to identify the prevalence of pathogenic mutations in the BRCA1/2 and TP53 genes in patients diagnosed with breast cancer treated at the Clinical Hospital of the Federal University of Goiás and to implement diagnostic techniques in the Laboratory of Molecular Genetics and Cytogenetics. For that, the patients will be screened according to NASH (National Agency of Supplementary Health) criteria and venous puncture will be performed on 400 patients, after which the samples will be submitted to DNA extraction and sequencing to detect point mutations in BRCA1/2 and TP53 genes and the MLPA technique for detection of large deletions and duplications in the genes. The results obtained in this study will allow the identification of patients at high risk for HBOC syndrome, who will be referred for genetic counseling, to receive information about the disease, its inheritance form, preventive strategies and risk reduction, as well as The chances of recurrence to other family members.BRCA1, BRCA2, breast cancer, hereditary cancer, MLPA