Genomic rearrangements in BRCA1 and BRCA2: A literature review

Women with mutations in the breast cancer genes BRCA1 or BRCA2 have an increased lifetime risk of developing breast, ovarian and other BRCA-associated cancers. However, the number of detected germline mutations in families with hereditary breast and ovarian cancer (HBOC) syndrome is lower than expected based upon genetic linkage data. Undetected deleterious mutations in the BRCA genes in some high-risk families are due to the presence of intragenic rearrangements such as deletions, duplications or insertions that span whole exons. This article reviews the molecular aspects of BRCA1 and BRCA2 rearrangements and their frequency among different populations. An overview of the techniques used to screen for large rearrangements in BRCA1 and BRCA2 is also presented. The detection of rearrangements in BRCA genes, especially BRCA1, offers a promising outlook for mutation screening in clinical practice, particularly in HBOC families that test negative for a germline mutation assessed by traditional methods

Avanços e desafios do planejamento no Sistema Único de Saúde Advances and challenges of the Unified Health System planning

Desde a criação do Sistema Único de Saúde (SUS), os gestores têm despendido esforços para a discussão do planejamento, enquanto componente fundamental da gestão, e feito tentativas para institucionalizá-lo.Entretanto, mesmo com os avanços, há aspectos que se colocam de forma prioritária e que constituem desafios para a institucionalização do planejamento no SUS. Nesse sentido, este estudo procura descrever a evolução do planejamento no sistema, por meio da análise de documentos legais e materiais técnicos publicados pelo Ministério da Saúde. A partir da concepção de planejamento presente nessas publicações, faz-se a reflexão sobre a abordagem empregada, considerando os instrumentos de gestão estabelecidos e sua vinculação às abordagens teórico-metodológicas mais aceitas atualmente para o planejamento em saúde. Para finalizar, apontam-se aspectos que precisam ser observados para a efetivação do planejamento ascendente no SUS.<br>Since the Unified Health System creation, managers have been expending efforts to discuss the planning and, made attempts to institutionalize it, considering that it's a basic management component. However, despite advances obtained, there are aspects that are priorities and that constitute challenges for the institutionalization of the planning at the Unified Health System. In this direction, this study describes the planning evolution in the system, by legal and technician material analysis of published documents by Ministry of Health. From the planning conception in these publications, it leads a reflection on the used approach, considering the established management instruments, and its entailing to the more currently accepted theory and methodology of health planning. Aspects that need to be observed are pointed for the effectiveness to ascendant planning at the Unified Health System