RESUMO
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.
RESUMO
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.
RESUMO
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.
Assuntos
Humanos , Masculino , Feminino , Predisposição Genética para Doença , Mutação , Neoplasias Ovarianas/genética , Neoplasias da Mama/genética , Amplificação de Genes , Deleção de Genes , Rearranjo Gênico , Genes BRCA1 , Hibridização in Situ Fluorescente , Reação em Cadeia da Polimerase , Fatores de RiscoRESUMO
Objetivos: Avaliar, na população feminina do município de Xangri-Lá, balneário do sul do estado, a prevalência da obesidade e seus fatores de risco. Métodos: Estudo de base populacional, prospectivo e transversal com aplicação de questionário estruturado com as variáveis: idade, cor, estado civil, escolaridade, renda familiar, idade da menarca e paridade. Critérios de inclusão: idade ≥ 20 anos, assinatura do consentimento informado e presença no posto de saúde do Programa de Saúde da Família (PSF) para exame das mamas e medidas da estatura, peso e pressão arterial. A obesidade foi definida pelo índice de massa corporal (IMC) ≥ 30 Kg/m². Resultados: Foram incluídas 728 mulheres com mais de 20 anos atendidas no PSF. A média de idade da amostra foi de 41 anos, com desvio padrão de 12,2. O IMC médio foi de 27,4 e verificou-se que 60,6% da população avaliada estava com peso acima do saudável, ou seja, IMC ≥ 25. A obesidade ocorreu em 26,9% dos casos e mostrou correlação positiva com a idade (p=0,000), sendo que 49,3% das mulheres a partir dos 60 anos eram obesas. A menarca precoce mostrou-se um preditor à obesidade (p=0,003). A multiparidade e a baixa renda familiar foram fatores predisponentes. Cerca de 67% das mulheres com menor nível de escolaridade (até 5 anos) estavam obesas ou com sobrepeso. Conclusões: A prevalência da obesidade nesta população feminina foi de 26,9%. A idade e a menarca precoce parecem ser os principais fatores de risco, mas também a paridade, a baixa escolaridade e a baixa renda familiar contribuem para a prevalência deste agravo.
Background: To evaluate the prevalence of obesity and its associated risk factors among women from Xangri-Lá, state of Rio Grande do Sul, Brazil. Methods: This was a population-based cross-sectional study. A structured questionnaire including the following variables: age, color, marital status, educational level, family income, age at first menstruation, and parity was administered. The inclusion criteria were: being ≥ 20 year old, having signed the informed consent form, and attending the outpatient clinic of the Family Health Program for breast exam and measurement of height, weight, and arterial pressure. Obesity was defined as body mass index (BMI) ≥ 30 Kg/m². Results: Seven hundred and twenty-eight women were included. Mean age was 41 years (SD = 12.2). Mean BMI was 27.4, and 60.6% of the sample was overweight (BMI ≥ 25). The prevalence of obesity among the subjects was 26.9%, showing a positive correlation with age (p=0.00), and 49.3% of the women older than 60 years old were obese. Early menarche was a predictor for obesity (p=0.003). Multiparity and low family income were contributing factors. About 67% of the women with low educational level (< 5 years) were obese or overweight. Conclusions: The prevalence of obesity in this female population was 26.9%. Age and early menarche seem to be the most important risk factors; however, parity, low educational level, and low family income contribute to the prevalence of obesity.
Assuntos
Humanos , Feminino , Adulto , Menarca/fisiologia , Menarca/psicologia , Obesidade/complicações , Obesidade/patologia , Obesidade/prevenção & controle , Obesidade/psicologia , Fatores de Risco , Estudos TransversaisRESUMO
Avaliar o conhecimento e a prática do auto-exame das mamas (AEM) em uma população do litoral do Rio Grande do Sul, bem como a prevalência e a associação de fatores sociodemográficos. Métodos: Agentes de saúde ligados ao Programa Saúde da Família (PSF) convidaram mulheres com mais de 20 anos a fazerem avaliação clínica das mamas nos postos de saúde do município e aplicaram um questionário semi-estruturado. As variáveis estudadas foram idade, escolaridade, estado civil, renda familiar e história familiar de câncer de mama. Resultados: Foram avaliadas 728 mulheres atendidas no PSF. Observou-se que 97% das mulheres conheciam o AEM e 82,1% destas o praticavam. Ao avaliar a freqüência, entre as 592 que faziam o AEM, a realização mensal (correta) era feita por apenas 207 mulheres, 28% da amostra populacional. As variáveis que se apresentaram estatisticamente associadas com a prática do auto-exame mensal foram idade (p < 0,001) e o grau de escolaridade (p < 0,02). As associações com estado civil, cor, renda e história familiar positiva para câncer de mama não foram estatisticamente significantes. Conclusão: A prática e a freqüência do auto-exame das mamas na população estudada foram inadequadas, pois apenas 28% praticavam-no corretamente. A aderência esteve relacionada à maior idade e ao maior grau de escolaridade. Perspectivas: educar usando a denominação de autoconhecimento das mamas, porque exame tem conotação médica.
Objectives: In order to evaluate the knowledge and the pratice of the breast self examination (BSE) in a low income population from the north shore of the estate of Rio Grande do Sul, as well to report the prevalence and sociodemographic factors associations. Methods: Public health employees from the Health Family Program invited women over 20 years of age for a breast clinical examination at a community clinic. They were submitted to semi-structured questionaire about factors potentially associated to the knowledge and pratice of BSE. Current age, marital status, education level, family income and breast cancer history of close relatives were collected and reported. Results: 728 women were included in the study. About 97% of women had knowledge of the BSE and 82,1% of them referred a regular practice. Among the 592 that referred the practice of BSE, anly 207 (28% of the sample) did it monthly. The variables that were statistically associated with monthly BSE were: current age (p < 0.001) and educational level (p < 0.02). Marital status, family income and breast cancer history of close relatives did not generated statistical significant values. Conclusion: The practice and frequency of the BSE was inadequate in the study population although most of them reported knowing BSE, only 28% use to perform it correctly. Women with higher educational level and old age were more adherent to the BSE practice.
Assuntos
Humanos , Feminino , Autoexame de Mama/estatística & dados numéricos , Autoexame de Mama/métodos , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/prevenção & controle , Estratégias de Saúde Nacionais , Demografia , Diagnóstico Precoce , Conhecimentos, Atitudes e Prática em Saúde , Fatores SocioeconômicosRESUMO
Objetivos: Avaliar a prevalência de achados benignos e incidência bruta do câncer de mama napopulação feminina atendida em três postos de saúde associados ao Programa de Saúde da Família(PSF) no município de Xangri-Lá, RS, Brasil. Métodos: A partir de um projeto de extensão daFaculdade de Medicina da Universidade Federal do Rio Grande do Sul, agentes de saúde ligadosao PSF convidaram mulheres com mais de 20 anos de idade a fazerem uma avaliação clínica dasmamas nos postos de saúde do município. Um questionário semi-estruturado foi aplicado e, a partirdas variáveis coletadas e do exame físico, fez-se um banco de dados. Resultados: Foram incluídas728 mulheres atendidas no PSF. As alterações benignas de forma e volume ocorreram em 11,4%, asalterações mamilares em 3,4% e a dor referida como mamária em 7%. A taxa bruta de incidência docâncer de mama foi de 128 por 100 mil mulheres. Conclusões: As alterações mamárias ocorreramem 15% das pacientes, e o câncer de mama pôde ser eficientemente diagnosticado por médico treinadono exame das mamas. Espera-se que, a partir dos resultados deste estudo, mais ações de saúdepossam ser estabelecidas para a prevenção e o controle do câncer de mama na atenção primária.
Objectives: To evaluate the prevalence of benign findings and breast cancer incidence among the femininepopulation examined in all the three public offices (PO) associated to the Health Family Program(PSF) in Xangri-Lá, RS, Brazil. Methods: Taking part in an extension project from the Medical Schoolof the Federal University of Rio Grande do Sul, agents from the PSF invited women older than 20 years ofage to perform a breast clinical evaluation in one of the PO. A semi-structured questionnaire was appliedand a database was created to store information from the collected variables and the physical examination.Results: Seven hundred twenty-eigth patients were included. Abnormal breast shape and volume weredetected in 11.4% of cases, nipple abnormalities in 3.4% and referred breast pain in 7.0%. The gross incidencerate of breast cancer was 128 per 100.000 women. Conclusion: Abnormal-benign examinationswere present in 15% of patients and breast cancer was successfully diagnosed by a physician trained inclinical breast examination. We hope that these results could stimulate new programs for prevention andcontrol of breast cancer, applied to primary attention.