RESUMO Racional: Os protocolos de recuperação otimizada após as operações têm as suas bases na cirurgia colônica, através das primeiras diretrizes publicadas em 2012. Desde então, tal prática difundiu-se pelo mundo, principalmente em virtude de melhorias nos resultados cirúrgicos associadas à economia de recursos. Objetivo: Apresentar os primeiros resultados prospectivos após a implementação das novas medidas. Métodos: Foram analisados de forma retrospectiva 48 pacientes operados na instituição previamente à aplicação do protocolo. Esse grupo foi então comparado com uma série de 25 pacientes operados de forma consecutiva após a implementação das diretrizes. Resultados: Com taxa de adesão de 68.6% às medidas propostas, observou-se redução do tempo de internação hospitalar (p=0.002), do uso de drenos abdominais (p<0.001) e do preparo mecânico do cólon (p<0.001). As taxas de mortalidade, de fístula da anastomose, de abscessos abdominais e de reoperações também foram reduzidas, porém sem significância estatística. Conclusão: A adesão às medidas recomendadas no protocolo é benéfica para pacientes e equipe de assistência, acarretando em melhores resultados e possível economia de recursos. Mesmo com algumas limitações, a sua implementação é factível no Sistema Único de Saúde Brasileiro.

ABSTRACT Background: Guidelines for enhanced recovery after surgery have their bases in colonic surgery, through the first protocols published in 2012. Since then, this practice has spread throughout the world, mainly due to improvements in surgical outcomes associated with resource savings. Aim: To analyze the first prospective results after the implementation of the guidelines. Methods: Were retrospectively analyzed 48 patients operated in the institution prior to the standardization. This group was then compared with a series of 25 patients operated consecutively after the guidelines were implemented. Results: With a 68.6% compliance rate, hospital length of stay (p=0.002), use of abdominal drains (p<0.001) and mechanical bowel preparation (p<0.001) were reduced. Mortality rates, anastomotic fistula, abdominal abscesses and reoperations were also reduced, but without statistical significance. Conclusion: Enhanced recovery after surgery protocols benefit patients care, resulting in better outcomes and possibly resource savings. Even with some limitations, its implementation is feasible in the Brazilian Public Health System.

Abstract Approximately 5-10% of breast cancers are caused by germline mutations in high penetrance predisposition genes. Among these, BRCA1 and BRCA2, which are associated with the Hereditary Breast and Ovarian Cancer (HBOC) syndrome, are the most frequently affected genes. Recent studies confirm that gene rearrangements, especially in BRCA1, are responsible for a significant proportion of mutations in certain populations. In this study we determined the prevalence of BRCA rearrangements in 145 unrelated Brazilian individuals at risk for HBOC syndrome who had not been previously tested for BRCA mutations. Using Multiplex Ligation-dependent Probe Amplification (MLPA) and a specific PCR-based protocol to identify a Portuguese founder BRCA2 mutation, we identified two (1,4%) individuals with germline BRCA1 rearrangements (c.547+240_5193+178del and c.4675+467_5075-990del) and three probands with the c.156_157insAlu founder BRCA2 rearrangement. Furthermore, two families with false positive MLPA results were shown to carry a deleterious point mutation at the probe binding site. This study comprises the largest Brazilian series of HBOC families tested for BRCA1 and BRCA2 rearrangements to date and includes patients from three regions of the country. The overall observed rearrangement frequency of 3.44% indicates that rearrangements are relatively uncommon in the admixed population of Brazil.

Abstract In Brazil, breast cancer is a public health care problem due to its high incidence and mortality rates. In this study, we investigated the prevalence of hereditary breast cancer syndromes (HBCS) in a population-based cohort in Brazils southernmost capital, Porto Alegre. All participants answered a questionnaire about family history (FH) of breast, ovarian and colorectal cancer and those with a positive FH were invited for genetic cancer risk assessment (GCRA). If pedigree analysis was suggestive of HBCS, genetic testing of the BRCA1, BRCA2, TP53, and CHEK2 genes was offered. Of 902 women submitted to GCRA, 214 had pedigrees suggestive of HBCS. Fifty of them underwent genetic testing: 18 and 40 for BRCA1/BRCA2 and TP53 mutation screening, respectively, and 7 for CHEK2 1100delC testing. A deleterious BRCA2 mutation was identified in one of the HBOC probands and the CHEK2 1100delC mutation occurred in one of the HBCC families. No deleterious germline alterations were identified in BRCA1 or TP53. Although strict inclusion criteria and a comprehensive testing approach were used, the suspected genetic risk in these families remains unexplained. Further studies in a larger cohort are necessary to better understand the genetic component of hereditary breast cancer in Southern Brazil.

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.