A importância de reconhecer e caracterizar mulheres brasileiras com a síndrome do câncer de mama e ovário hereditários

O câncer de mama é o mais incidente na população feminina, excetuando-se os casos de câncer de pele. Calcula-se que 20 a 30% dos casos sejam de origem familial e os outros 70 a 80% sejam esporádicos. Pacientes que apresentam critérios para neoplasia de origem familial, necessitam de avaliação genética, uma vez que o diagnóstico de câncer hereditário resulta em condutas diferenciadas de manejo para o paciente e familiares com atuações custo-efetivas comprovadas. O Sistema Único de Saúde (SUS) no Brasil, que atende em torno de 70% da população, não cobre a realização de exames para avaliação de câncer hereditário. Os critérios para selecionar os indivíduos que se beneficiam dessa avaliação são bem estabelecidos por diretrizes internacionais, as quais embasaram também as recomendações da ANS (Agência Nacional de Saúde Suplementar) para a cobertura por parte dos convênios de saúde para consulta de aconselhamento genético e para realização de exames complementares. No Brasil, existem poucas publicações analisando os dados epidemiológicos das nossas pacientes em risco para câncer hereditário. Esse trabalho tem como objetivo contribuir com dados de indivíduos brasileiros para o conhecimento da Síndrome do Câncer de Mama e Ovário Hereditários e consiste em descrever a frequência de pacientes com indicação de análise molecular dos genes BRCA1 e BRCA2 em uma instituição específica no estudo multicêntrico AMAZONA III; em descrever a prevalência de mutações patogênicas e VUS em BRCA1 e BRCA2 em uma série de casos de câncer de mama metastáticos no Rio Grande do Sul e descrever uma paciente com câncer de mama em idade jovem, portadora de mutações germinativas em BRCA2 e NF1, avaliando a contribuição de perda de heterozigozidade no câncer de mama e um possível efeito de antecipação da idade ao diagnóstico.Breast cancer is the most frequent malignant cancer among women worldwide and in Brazil. Approximately 20 to 30% of all breast cancer cases are familial and the other 70 to 80% are sporadic. Patients who present criteria for possible familial or hereditary breast cancer require genetic evaluation, since the diagnosis of hereditary cancer results in different management procedures for patients and their at-risk relatives with proven cost-effective interventions. The Brazilian National Health System (SUS), which covers 70% of the population, does not cover genetic tests for evaluating hereditary cancer. Criteria for selecting individuals who would benefit from this type of evaluation are established by international guidelines, which provided the basis for the recommendations issued by the Brazilian Regulatory Agency for private health care (ANS, Agência Nacional de Saúde - National Health Agency) regarding genetic counseling and testing. In Brazil, there are few publications analyzing epidemiological data of high-risk patients, especially those at risk for hereditary cancer. This study aims to contribute data from Brazilian individuals to the knowledge of the Hereditary Breast and Ovarian Cancer Syndrome in our population and consists of describing the frequency of patients with indication of molecular analysis of the BRCA1 and BRCA2 genes in a specific institution in the study multicenter AMAZONA III; describing the prevalence of pathogenic and VUS mutations in BRCA1 and BRCA2 in a series of metastatic breast cancer cases in Rio Grande do Sul and to describe a patient with breast cancer at a young age with BRCA2 and NF1 germline mutations, evaluating the contribution of loss of heterozygosity in breast cancer and a possible effect of anticipating age at diagnosis

Electrical Stimulation for Urinary Incontinence in Women: A Systematic Review

Background Electrical stimulation is commonly recommended to treat urinary incontinence in women. It includes several techniques that can be used to improve stress, urge, and mixed symptoms. However, the magnitude of the alleged benefits is not completely established. Objectives To determine the effects of electrical stimulation in women with symptoms or urodynamic diagnoses of stress, urge, and mixed incontinence. Search Strategy: Our review included articles published between January 1980 and January 2012. We used the search terms “urinary incontinence”, “electrical stimulation”, “intravaginal”, “tibial nerve” and “neuromodulation” for studies including female patients. Selection Criteria We evaluated randomized trials that included electrical stimulation in at least one arm of the trial, to treat women with urinary incontinence. Data Collection and Analysis Two reviewers independently assessed the data from the trials, for inclusion or exclusion, and methodological analysis. Main Results A total of 30 randomized clinical trials were included. Most of the trials involved intravaginal electrical stimulation. Intravaginal electrical stimulation showed effectiveness in treating urge urinary incontinence, but reported contradictory data regarding stress and mixed incontinence. Tibial-nerve stimulation showed promising results in randomized trials with a short follow-up period. Sacral-nerve stimulation yielded interesting results in refractory patients. Conclusions Tibial-nerve and intravaginal stimulation have shown effectiveness in treating urge urinary incontinence. Sacral-nerve stimulation provided benefits in refractory cases. Presently available data provide no support for the use of intravaginal electrical stimulation to treat stress urinary incontinence in women. Further randomized trials are necessary to determine the magnitude of benefits, with long-term follow-up, and the effectiveness of other electrical-stimulation therapies

Additional file 1 of Management of early-stage triple-negative breast cancer: recommendations of a panel of experts from the Brazilian Society of Mastology

Additional file 1: Table S1. Profile of the panelists (n = 27) and of the SBM affiliated breast surgeons (n = 214) who participated in the survey

Additional file 5 of Management of early-stage triple-negative breast cancer: recommendations of a panel of experts from the Brazilian Society of Mastology

Additional file 5: Table S5. Summary of the consensus among the SBM affiliated breast surgeons

Additional file 7 of Management of early-stage triple-negative breast cancer: recommendations of a panel of experts from the Brazilian Society of Mastology

Additional file 7: Table S7.1. Comparison between the panelists and the SBM affiliated breast surgeons regarding the questions related to diagnosis. Table S7.2. Comparison between the panelists and the SBM affiliated breast surgeons regarding the questions related to surgery. Table S7.3. Comparison between the panelists and the SBM affiliated breast surgeons regarding the questions related to radiotherapy. Table S7.4. Comparison between the panelists and the SBM affiliated breast surgeons regarding the questions related to systemic treatment