As neoplasias malignas figuram como a segunda causa de morte por doença no mundo todo, no Brasil, e no município de Ribeirão Preto. Políticas têm sido propostas na arena da saúde pública para o enfrentamento da problemática do câncer no país. De acordo com a Política Nacional de Atenção Oncológica, é no contexto da Atenção Básica à Saúde que ações no âmbito individual e coletivo precisam ser realizadas, visando à prevenção, o diagnóstico precoce e o combate ao câncer. Para que o cuidado ministrado às famílias brasileiras com história pessoal e/ou familiar de câncer, no contexto da Estratégia Saúde da Família, seja efetivo, é essencial conhecer como os usuários percebem seu risco para essa doença, quais são os comportamentos em saúde por eles adotados e se esses sujeitos têm interesse em serviços e testes genéticos para avaliação de risco para predisposição hereditária ao câncer. Logo, os objetivos desse estudo foram descrever o perfil sócio demográfico de usuários de uma unidade de saúde da família com história pessoal de neoplasias malignas; conhecer sua percepção de risco e opinião sobre as causas do câncer; mapear a realização de exames preventivos e do acesso às informações sobre os mesmos; descrever o interesse em serviços de genética do câncer e associar comportamentos adotados para prevenção de tumores e história familiar de malignidades. Trata-se de um estudo descritivo, com delineamento transversal, realizado no período de agosto de 2009 a outubro de 2010, após aprovação do Comitê de Ética e Pesquisa. Foram avaliados 2.441 prontuários individuais e 1.010 prontuários familiares em uma unidade de saúde da família, sendo levantadas 238 famílias (23,5%) com história pessoal (HP) e/ou familiar (HF) de neoplasias, 61 sujeitos com história pessoal (HP) e 15 desses também com HF da doença. A amostra final foi composta por 23 indivíduos, que receberam visita domiciliar e responderam a um questionário semiestruturado, com questões referentes a variáveis sociodemográficas; presença de HP e/ou HF de câncer; percepção de risco; acesso às informações, recursos e realização de exames preventivos; e interesse em serviços de genética. Para a análise dos dados, utilizou-se estatística descritiva e o teste exato de Fisher. A maioria dos respondentes (69,6%) era do sexo feminino, com idade média de 66,5 anos (DP=12,6) e mediana de 68. Os tumores mais prevalentes foram: mama (16 casos), estômago (sete casos) e intestino (seis casos). Os sujeitos consideram que seu risco para câncer é nulo ou muito baixo, pois referiram realizar seguimento regular. Grande parte dos entrevistados não soube responder quais eram as causas do câncer, porém os aspectos emocionais/psicológicos foram citados, acompanhados pela influência de agentes externos. Dentre os participantes, 87% relataram ter informações suficientes sobre os exames preventivos, 56,5% não tem interesse em aprender mais sobre os riscos para câncer, 69,6% realizariam exame de sangue para saber sua predisposição ao câncer hereditário. O interesse em testes genéticos pode demonstrar a preocupação desses indivíduos em compreender melhor os aspectos genéticos de sua doença. Os achados desse estudo evidenciam a necessidade de intervenção dos profissionais de saúde envolvidos na atenção primária. / Malignant neoplasms appear as the second leading cause of death by disease worldwide, in Brazil, and in the city of Ribeirão Preto. Policies have been proposed in the public health area to face the problem of cancer in Brazil. According to the National Policy for Care in Oncology, it is in the context of Primary Health Care that individual and collective actions need to be performed, aiming at prevention, early diagnosis and fighting cancer. In order to have an effective care provided to Brazilian families with personal and/or family history of cancer, in the context of the Family Health Strategy, it is essential to know how users perceive their risk for this disease, what are the health behaviors they adopt and whether these individuals have interest in genetics services and tests for assessment of the risk for hereditary cancer predisposition. This descriptive and cross-sectional study aimed to describe the sociodemographic profile of users from a family health unit with personal history of malignant neoplasms; to know their perception of risk and opinion about the causes of cancer; to map the accomplishment of preventive exams and the access to information about them; to describe the interest in cancer genetics services and to associate behaviors adopted to prevent tumors and cancer family history. The study was carried out between August 2009 and October 2010, after approval of the Research Ethics Committee. In total, 2,441 individual medical records and 1,010 family medical records were assessed, in a family health unit of the family, totaling 238 families (23.5%) with personal history (PH) and/or family (FH) of cancer, 61 subjects with personal history (PH) and 15 of them also with FH of the disease. The final sample consisted of 23 individuals who received home visits and answered a semi-structured questionnaire, with questions about sociodemographic variables, presence of PH and/or FH of cancer, risk perception, access to information, resources and performance of preventive exams; and interest in genetic services. For data analysis, descriptive statistics and Fisher\'s exact test were used. Most respondents (69.6%) were female, average age of 66.5 years (SD = 12.6) and median of 68. The most prevalent tumors were: breast (16 cases), stomach (seven cases) and intestine (six cases). The participants considered that their cancer risk is zero or very low, as reported performing regular follow-up. Most respondents could not answer what were the causes of cancer, but the emotional/psychological aspects were mentioned, followed by the influence of external agents. Among participants, 87% reported having enough information about the preventive exams, 56.5% have no interest in learning more about the risks for cancer, 69.6% would perform a blood test to determine their predisposition to hereditary cancer. Interest in genetic testing can demonstrate the concern of those individuals in better understanding the genetic aspects of their disease. The findings evidence the need for intervention by the health professionals involved in primary care.

Sy, Hing Yee. / Thesis (Ph.D.)--Chinese University of Hong Kong, 2011. / Includes bibliographical references (leaves lxxiv-xciv). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Abstract also in Chinese; appendixes I-III in Chinese.

by Sung Ying-Man, Mandy. / Thesis (M.Phil.)--Chinese University of Hong Kong, 2003. / Includes bibliographical references (leaves 112-125). / Abstracts in English and Chinese. / Acknowledgments --- p.I / List of Abbreviations --- p.II / Abstract --- p.IV / 摘要 --- p.VII / Chapter Chapter 1 --- Introduction / Chapter 1.1 --- Epidemiology --- p.1 / Chapter 1.2 --- Aetiological factors --- p.4 / Chapter 1.2.1 --- Hepatitis B infection --- p.4 / Chapter 1.2.2 --- Aflatoxin exposure --- p.5 / Chapter 1.2.3 --- Alcohol consumption --- p.5 / Chapter 1.2.4 --- Genetic risk factors --- p.6 / Chapter 1.3 --- Aims of the study --- p.7 / Chapter Chapter 2 --- Polymorphisms of candidate genes in Interleukin- signalling pathway in HCC --- p.6 / Chapter 2.1 --- Introduction --- p.9 / Chapter 2.2 --- Materials and Methods --- p.15 / Samples and Genomic DNA isolation --- p.15 / PCR-PFLP --- p.15 / dHPLC --- p.16 / Direct Sequencing --- p.17 / Stattistical Analysis --- p.17 / Chapter 2.3 --- Results --- p.25 / Chapter 2.3.1 --- Known IL6 polymorphisms --- p.25 / Chapter 2.3.2 --- IL-6R and gp130 polymorphisms --- p.28 / Chapter 2.3.3 --- Stat-3 polymorphisms --- p.29 / Chapter 2.3.4 --- SOCS-1 polymophisms --- p.32 / Chapter 2.3.5 --- Mutation screening of IL-6 gene --- p.34 / Chapter 2.3.6 --- Mutation screening of SOCS-1 gene --- p.39 / Chapter 2.4 --- Discussion --- p.40 / Chapter 2.4.1 --- Interleukin-6 --- p.40 / Chapter 2.4.2 --- Gp130 and IL6-R --- p.43 / Chapter 2.4.3 --- STAT-3 --- p.44 / Chapter 2.4.4 --- SOCS-l --- p.46 / Chapter Chapter 3 --- Methylation status of SOCS-1 gene in Chinese HCC patients / Chapter 3.1 --- Introduction --- p.49 / Chapter 3.2 --- Methods and Materials --- p.53 / Tissue Sampling --- p.53 / Methylation specific PCR (MSP) --- p.53 / Chapter 3.3 --- Results --- p.55 / Chapter 3.4 --- Discussion --- p.56 / Chapter Chapter 4 --- Polymorphisms of enzyme encoding genesin steroidogenesis in Chinese / Chapter 4.1 --- Introduction --- p.59 / Chapter 4.1.1 --- Steroid 5a reductases (SRD5A) --- p.62 / Chapter 4.1.1a --- Steroid 5a reductase type II (SRD5A2) --- p.63 / Chapter 4.1.1b --- Steroid 5a reductase type I (SRD5A1) --- p.65 / Chapter 4.1.2 --- Cytochrome P450al7 (CYP17) --- p.67 / Chapter 4.1.3 --- "Cytochrome P450, family 1，subfamily A polypeptide1 (CYP1A1)" --- p.69 / Chapter 4.1.4 --- "Cytochrome P450, subfamily IIIA (niphedipine oxidase) polypeptide 4 (CYP3A4)" --- p.71 / Chapter 4.2 --- Materials and Methods --- p.74 / Samples and Genomic DNA isolation --- p.74 / PCR-PFLP --- p.74 / Direct Sequencing --- p.74 / Statistical Analysis --- p.74 / Chapter 4.3 --- Results --- p.77 / Chapter 4.3.1 --- SRD5A2 --- p.77 / Chapter 4.3.2 --- Linkage Disequilibrium in SRD5A2 gene --- p.83 / Chapter 4.3.2 --- SRD5A1 --- p.84 / Chapter 4.3.3 --- CYP17 --- p.87 / Chapter 4.3.4 --- CYP1A1 --- p.89 / Chapter 4.3.5 --- CYP3A4 --- p.92 / Chapter 4.3.6 --- Logistic regression --- p.95 / Chapter 4.4 --- Discussion --- p.96 / Chapter 4.4.1 --- SRD5A2 --- p.96 / Chapter 4.4.2 --- SRD5A1 --- p.99 / Chapter 4.4.3 --- CYP17 --- p.101 / Chapter 4.4.4 --- CYP1A1 --- p.103 / Chapter 4.4.5 --- CYP3A4 --- p.106 / Chapter 4.4.6 --- Logistic Regression --- p.107 / Chapter Chapter 5 --- Conclusions and Future Prospect --- p.108 / Chapter 5.1 --- Conclusions --- p.108 / Chapter 5.2 --- Future works and prospect --- p.111 / References --- p.113

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