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.

Objetivou-se avaliar a influência regional no consumo precoce de alimentos diferentes do leite materno em menores de seis meses residentes nas capitais brasileiras. Analisaram-se dados de 18.929 crianças da II Pesquisa de Prevalência de Aleitamento Materno nas Capitais Brasileiras - 2008. As frequências do consumo de chá, sucos, leite artificial e mingau/papa foram calculadas para as capitais das cinco regiões brasileiras. Curvas do consumo foram obtidas pela análise de logitos e estimativas das razões de prevalência (RP) por modelos de Poisson. O consumo de leite artificial foi maior quando comparado aos demais alimentos em todas as capitais. As capitais do Sul apresentaram a maior razão de prevalência para o consumo de chá (RP = 2,37) e as do Nordeste e Sudeste, para o consumo de outros tipos de leite (RP = 1,50 e 1,47) e de suco (RP = 1,57 e 1,55). Nas capitais do Nordeste, o consumo precoce de mingau/papa foi maior (RP = 3,0). A região tem influência no consumo precoce de alimentos, o que deve ser levado em consideração na elaboração de políticas públicas.

The aim was to assess regional influences on food consumption in infants less than six months of age. A cross-sectional study was conducted in a sample of 18,929 infants participating in the Second Survey on Breastfeeding Prevalence in Brazilian State Capitals and the Federal District in 2008. Consumption rates for tea, fruit juices, formula milk, and porridge were calculated for the State capitals from the five geographic regions of the country. Food consumption was estimated by logit analyses and Poisson models. Differences in food consumption profile were observed between the different regions: tea was more common in State capitals in the South (RP = 2.37), while non-maternal milk (RP = 1.50 and 1.47) and juices (RP = 1.57 and 1.55) were more frequent in the Northeast and Southeast, respectively. Porridge was more common in the Northeast (RP = 3.0). Brazil's geographic regions thus display different infant feeding patterns. Public policy should take cultural diversity into account when planning strategies to improve infant nutrition and health.

Objetivou-se avaliar a influência regional no consumo precoce de alimentos diferentes do leite materno em menores de seis meses residentes nas capitais brasileiras. Analisaram-se dados de 18.929 crianças da II Pesquisa de Prevalência de Aleitamento Materno nas Capitais Brasileiras - 2008. As frequências do consumo de chá, sucos, leite artificial e mingau/papa foram calculadas para as capitais das cinco regiões brasileiras. Curvas do consumo foram obtidas pela análise de logitos e estimativas das razões de prevalência (RP) por modelos de Poisson. O consumo de leite artificial foi maior quando comparado aos demais alimentos em todas as capitais. As capitais do Sul apresentaram a maior razão de prevalência para o consumo de chá (RP = 2,37) e as do Nordeste e Sudeste, para o consumo de outros tipos de leite (RP = 1,50 e 1,47) e de suco (RP = 1,57 e 1,55). Nas capitais do Nordeste, o consumo precoce de mingau/papa foi maior (RP = 3,0). A região tem influência no consumo precoce de alimentos, o que deve ser levado em consideração na elaboração de políticas públicas.

The aim was to assess regional influences on food consumption in infants less than six months of age. A cross-sectional study was conducted in a sample of 18,929 infants participating in the Second Survey on Breastfeeding Prevalence in Brazilian State Capitals and the Federal District in 2008. Consumption rates for tea, fruit juices, formula milk, and porridge were calculated for the State capitals from the five geographic regions of the country. Food consumption was estimated by logit analyses and Poisson models. Differences in food consumption profile were observed between the different regions: tea was more common in State capitals in the South (RP = 2.37), while non-maternal milk (RP = 1.50 and 1.47) and juices (RP = 1.57 and 1.55) were more frequent in the Northeast and Southeast, respectively. Porridge was more common in the Northeast (RP = 3.0). Brazil's geographic regions thus display different infant feeding patterns. Public policy should take cultural diversity into account when planning strategies to improve infant nutrition and health.

OBJETIVOS: Apresentar os indicadores de aleitamento materno (AM), obtidos na II Pesquisa de Prevalência de Aleitamento Materno nas Capitais Brasileiras e Distrito Federal, bem como analisar sua evolução no período de 1999 a 2008. MÉTODOS: Pesquisa de corte transversal, envolvendo crianças menores de 1 ano de idade que participaram da segunda fase da campanha de multivacinação de 2008. Foram utilizadas amostras por conglomerados, com sorteio em dois estágios. O questionário era composto por questões fechadas, incluindo o consumo de leite materno, outros tipos de leite e outros alimentos no dia anterior à pesquisa. Foram analisadas as prevalências de AM na primeira hora de vida; aleitamento materno exclusivo (AME) em menores de 6 meses; AM em crianças de 9 a 12 meses; e medianas do AME e AM. A variação temporal do AM foi estabelecida por meio da comparação das medianas do AME e AM em 1999 e 2008. RESULTADOS: Obtiveram-se dados de 34.366 crianças. Verificou-se que 67,7% (IC95% 66,7-68,8) mamaram na primeira hora de vida; a prevalência do AME em crianças de 0 a 6 meses foi de 41% (IC95% 39,7-42,4), e do AM em crianças de 9 a 12 meses foi de 58,7% (IC95% 56,8-60,7). Houve aumento de 30,7 dias na duração mediana do AME e de 45,7 dias na mediana do AM. CONCLUSÃO: Houve melhora significativa da situação do AM na última década. Porém, ainda são necessários esforços para que o Brasil atinja índices de AM compatíveis com as recomendações da Organização Mundial da Saúde.

OBJECTIVES: To present the breastfeeding (BF) indicators obtained in the Second Survey on Prevalence of Breastfeeding in the Brazilian Capitals and the Federal District and to analyze their evolution from 1999 to 2008. METHODS: A cross-sectional study was conducted in children younger than 1 year old who participated in the second phase of the multivaccination campaign in 2008. We used two-stage cluster sampling. The questionnaire consisted of closed questions, including data on consumption of breast milk, other types of milk, and other foods on the day prior to the survey. We analyzed the prevalence of BF in the first hour of life; exclusive BF in children younger than 6 months; BF in children aged 9 to 12 months; and medians of exclusive BF and BF. The time variation of BF was established by comparing the medians of exclusive BF and BF in 1999 and 2008. RESULTS: We obtained data from 34,366 children. We found that 67.7% (95%CI 66.7-68.8) of the children were breastfed in the first hour of life; the prevalence of exclusive BF in children aged 0 to 6 months was 41% (95%CI 39.7-42.4), while the prevalence of BF in children aged 9 to 12 months was 58.7% (95%CI 56.8-60.7). There was an increase of 30.7 days in the median duration of exclusive BF and 45.7 days in the median of BF. CONCLUSION: There was a significant improvement in the breastfeeding prevalence in the last decade. However, further efforts are required so that Brazil can reach BF rates compatible with the recommendations of the World Health Organization.

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.

RACIONAL: No Brasil, o câncer colorretal é o sexto tumor em freqüência e o quinto em mortalidade. Marcadores moleculares têm sido associados com o prognóstico da doença, especialmente em relação à resposta terapêutica e taxa de sobrevida. Dentre eles, a instabilidade de microssatélites tem sido amplamente estudada. O estado de instabilidade de microssatélites é usualmente determinado pela comparação entre tecido tumoral e tecido normal correspondente de um mesmo paciente e a instabilidade se caracteriza pela diferença no perfil do produto de amplificação por PCR destes tecidos em um determinado locus. Usualmente, é utilizado um painel de cinco marcadores para este propósito. Dois deles (BAT-25 e BAT-26) são considerados monomórficos em populações de origem européia. OBJETIVO: Analisar a freqüência de variação constitutiva nos loci BAT-25 e BAT-26 em amostra de indivíduos do sul do Brasil. MÉTODOS: Duzentos e dezesseis indivíduos saudáveis e não relacionados foram analisados para determinar a freqüência de variação alélica nestes loci. O rastreamento de variantes alélicas foi feito por "polymerase chain reaction - single strand conformation polymorphism" (PCR-SSCP). RESULTADOS: Observou-se possível variação alélica constitutiva em 7% e 6% dos pacientes nos loci BAT-25 e BAT-26, respectivamente. CONCLUSÃO: Estes resultados indicam que há significativa variação alélica constitucional nos loci BAT-25 e BAT-26 em grupos selecionados, como nesta amostra de indivíduos brasileiros, e reforça a importância de estudos comparativos entre tecido tumoral e o tecido normal correspondente para identificar instabilidade de microssatélites em populações determinadas.

BACKGROUND: Colorectal cancer is the sixth most common tumor and the fifth in mortality in Brazil. Molecular markers have been associated with disease prognosis, especially in relation to therapeutic response and overall survival rates. Among these, microsatellite instability has been extensively studied. Microsatellite stability status is usually determined by comparison of normal and tumoral tissues from the same patient and instability is characterized by the difference in the PCR-amplification profile of these tissues at a given locus. Usually, a panel of five markers is used for this purpose. Two of them (BAT-25 and BAT-26) are considered monomorphic in populations of European origin. AIM: To analyse the frequency of constitutive polymorphic variation at BAT-25 and BAT-26 loci in a sample of individuals from Southern Brazil. METHODS: Two-hundred and sixteen healthy and unrelated individuals were analised to assess the frequency of allelic variation at the BAT-25 and BAT-26 loci in DNA extracted from peripheral blood. Analysis was done by polymerase chain reaction - single strand conformation polymorphism (PCR-SSCP). RESULTS: From the sample of patients studied, 7% and 6% of the patients had possible constitutive allelic variation at the BAT-25 and BAT-26 loci, respectively. CONCLUSIONS: These results indicate that significant constitutive allelic variation of these loci does occur in heterogeneous populations such as ours, and reinforce the importance of comparative studies between tumoral and corresponding normal tissue to determine microsatellite stability status and correctly identify microsatellite instability in selected populations.