Andre Mattar, Roberto Hegg, Sabrina M. Rondelo, Viviane Rigoni, Evelyn T. S. Silva, Luiz H Gebrim,
Institution: Hospital Perola Byington
Goals: To determine the prevalence of BRCA mutations in the gene (I and 2) in patients with metastatic breast cancer from Perola Byington Hospital (A public institution located in Sao Paulo). This institution treats about 1,000 new cases of breast cancer per year. Nowadays we know that BRCA muttions are the most important cause if familial breast cancer and this mutation plays a importante role in ovarian cancer too. The prevalence of these mutations is almost not studied in Brazil and so few data are available. The test has a high cost and is not currently available to most hospitals that treats breast cancer in Public Health System — SUS. Methodology: Determine through the Pathway Genomics laboratory the prevalence of gene mutations BRCA 1 and 2 in 157 patients with metastatic breast cancer in Perola Byington Hospital between April and December 2015. Determine the median age, familial history and the type of tumor (triple negative, Lumina) or Her2). Results: From the 157 patients we could find 10 deleterious mutations in the BRCA genes (6,4%) and 5 mutations with uncertain behavior (3,2%). The mean age was 53 years for the hole population and 46 for those who were mutated. All of the tumors with BRCA mutation were ductal and we had 5 luminal, 3 triple negative and 2 Her2 positive breast cancer. Conclusion: Little data is published about BRCA mutation in Brazilian population especially in metastatic breast cancer. There are some trials going on in drug developing in this population and more prevalent studies are necessary to determinate the real number of BRCA carriers in our country.Key words: BRCA carriers, Metastatic Breast Cancer, Brazil