Introduction: To analyze the occurrence of genetic mutations in a sample of patients with high risk of breast cancer in Florianopolis/ SC from December 1st, 2021, to January 31, 2022. Methods: An observational, descriptive and retrospective study carried out through data collection of a preexisting database. A total of 194 tests were analyzed. Of these, 192 met the inclusion criteria and composed the final sample of 205 genes. Data were classified and reported the frequency and percentage of the variables: gene and presence or absence of mutation. Results: Mean age of the analyzed patients was 52.3 years, and most underwent the test due to personal history of breast cancer (80%). Clinical significance classification showed that, of the 192 gene panels, 62% were variants of uncertain significance; 14% were pathogenic; and 24%, negative. Of the 205 mutations, the most prevalent genes were: ATM 8.7%, MUTYH 5.8%, POLE 5.8%, BRCA2 4.8%, MSH6 4.8% and RECQL4 4.8%. Of the pathogenic tests regarding genetic predisposition to cancer (n=38/14.1%), the most common mutations were MUTYH (23%) and BRCA1 (15%), with mean age of 52 years (±14.3). In variants of uncertain significance panels (n=168/62%) the frequency rates were ATM (7.7%), POLE (7.1%) and MSH6 (5.9%) genes. The high penetrance genes were present in 18% of the genetic predisposition to cancer panels. Of those with positive family history (n=40), 19% of the genes were pathogenic, 53% were variants of uncertain significance; and 26% were negative. Furthermore, in patients with pathogenic mutations and positive family history (n=11), the most common mutations were in BRCA1 (27%) and BRCA2 (27%). Of the patients who tested due to personal history (n=152), 64% of the genes presented variants of uncertain significance, 13% were pathogenic and 22% were negative. Conclusion: The results are consistent with those described in the literature, drawing attention to the frequency of genetic predisposition to cancer panels with variants of uncertain significance .

Introduction: Breast cancer is the most common female cancer and the leading cause of cancer death in women around the world. It has repercussions not only on human health, but also on health services due to the high incidence resulting in a large number of consultations and treatments. The disease is responsible for a large demand for hospitalizations throughout Brazil, where an increase in mortality rates is observed and Santa Catarina does not differ from the national scenario. The study aimed to analyze the temporal trend of the breast cancer mortality rate in the state of Santa Catarina from 1996 to 2019 Methods: This is an ecological epidemiological study of time series of breast cancer mortality in the population residing in the state according to age groups and health macro-regions. Data were obtained from the Mortality Information System and the Brazilian Institute of Geography and Statistics. Simple linear regression of standardized mortality rates according to the world standard population was performed. p<0.05 was considered significant. Results: Data showed 9,637 deaths in the period. There was a significant upward trend in mortality in the state (from 6.50 to 7.92/100,000 women). An upward trend was observed in the age groups of 30–39 years, 60–69 years, and over 80 years. All seven health macro-regions showed an upward trend in mortality. Conclusion: The overall mortality rate from breast cancer in Santa Catarina showed a significant upward trend. A significant increase was also observed in the age groups of 30–39 years, 60–69 years, and 80 years old or older and in all health macro-regions. Problems in public health infrastructure, lack of control of risk factors and deficiency in mammographic screening are revealed. The elaboration and strengthening of public policies to control the disease are fundamental.