RESUMO
Of all malignant neoplasias affecting women, breast cancer has the highest incidence rate in Brazil. The objective of the present study was to determine the frequency of genetic modifications in families with medium and high risk for breast and ovarian cancer from different regions of Brazil. An exploratory, descriptive study was carried out on the prevalence of the BRCA1 and BRCA2 mutations in case series of high-risk families for breast and/or ovarian cancer. After heredogram construction, a blood sample was taken and DNA extraction was performed in all index cases. The protein truncation test was used to screen for truncated mutations in exon 11 of the BRCA1 gene and in exons 10 and 11 of the BRCA2 gene. Of the 612 individuals submitted to genetic testing, 21 (3.4 percent), 19 women and 2 men, had mutations in the BRCA1 or BRCA2 genes. Of the 19 BRCA1 mutations found in the 18 participants, 7 consisted of ins6kb mutations, 4 were 5382insC, 3 were 2156delGinsCC, 2 were 185delAG, 1 was C1201G, 1 was C3522T, and 1 was 3450del4. With respect to the BRCA2 gene, 3 mutations were found: 5878del10, 5036delA and 4232insA (one case each). The prevalence of germline mutations in the BRCA1 and BRCA2 genes found in the present study was lower than reported by other studies on high-risk Brazilian populations. The inclusion of individuals with medium risk may have contributed to the lower prevalence observed.
Assuntos
Feminino , Humanos , Masculino , Neoplasias da Mama/genética , Genes BRCA1 , Mutação em Linhagem Germinativa/genética , Neoplasias Ovarianas/genética , Brasil , Neoplasias da Mama Masculina/genética , Família , Predisposição Genética para Doença , Fatores de RiscoRESUMO
O Índice de Peritonite de Mannheim (MPI) é um sistema de escore idealizado para avaliar o prognóstico de pacientes com peritonite. Realizamos um estudo retrospectivo de oito anos dos prontuários de 89 pacientes com doença maligna e peritonite submetidos a cirurgia. O índice médio foi de 26.6 pontos (5-47), com sensibilidade de 87,3 por cento e especificidade de 41,2 por cento. A melhor acurácia (69,7 por cento) foi obtida com o escore de 21. Concluimos que o MPI foi um preditor de morte confiável em pacientes oncológicos com peritonite e pode ser de utilidade no planejamento e avaliação de futuras formas de tratamento nestes pacientes.