[how The Gynecologist Can Guide Women With A Family History Of Cancer?].

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Genetics and genomics in Brazil: a promising future

The authors would like to express their gratitude to Celia P. Koiffmann for a critical review of the manuscript. M. R. P. B., D. B., and L. A. B. are funded by FAPESP and CNPq

Perception of cancer causes and risk, family history and preventive behaviors of users in oncogenetic counseling

The aims of the present study were to describe cancer causes and risk perception, and to associate behaviors adopted for the prevention of tumors and cancer family history in individuals with suspect of hereditary cancer syndromes. A convenience sample of 51 individuals was selected from an oncogenetic counseling outpatient clinic in a university hospital in the countryside of the state of São Paulo. An instrument adapted to Brazilian culture was used. The respondents considered their own risk as being the same as the population's risk, and family history was not statistically associated with the performing of preventive exams. These findings highlight the need for intervention by health professionals, especially nurses, who may conduct health education activities for this population, which is an essential component of nursing care in oncogenetics.El estudio objetivó describir la percepción de causas y riesgo de padecer neoplasias, así como asociar comportamientos adoptados para la prevención de tumores e historia familiar de la patología en individuos con sospecha de síndromes neoplásicos hereditarios. La muestra de conveniencia se constituyó de 51 pacientes atendidos en ambulatorio de asesoramiento oncogenético de un hospital escuela del interior paulista. Se utilizó un instrumento traducido y adaptado a la cultura brasileña. Los consultados consideraron su riesgo de cáncer como equiparable al de la población en general, la historia familiar de enfermedades malignas no fue estadísticamente asociada a la realización de estudios preventivos. Los resultados del estudio demuestran la necesidad de intervención de los profesionales de salud, en especial del enfermero, el cual puede desarrollar actividades de educación en salud conjuntamente con estos sujetos, como uno de los componentes esenciales para el cuidado de enfermería en oncogenética.O presente estudo teve como objetivo descrever a percepção de causas e risco para neoplasias, bem como associar comportamentos adotados para prevenção de tumores e história familiar dessa patologia em indivíduos com suspeita de síndromes neoplásicas hereditárias. A amostra de conveniência foi constituída por 51 usuários atendidos em um ambulatório de aconselhamento oncogenético de um hospital-escola do interior paulista. Utilizou-se um instrumento previamente traduzido e adaptado para a cultura brasileira. Os respondentes consideraram seu risco de câncer como sendo igual ao da população em geral e a história familiar de malignidades não foi estatisticamente associada à realização de exames preventivos. Os resultados deste estudo evidenciam a necessidade de intervenção dos profissionais de saúde, em especial do enfermeiro, o qual pode desenvolver atividades de educação em saúde junto a essa clientela, como um dos componentes essenciais para o cuidado de enfermagem em oncogenética

Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representative survey on epidemiology, clinical status, and diagnostic and therapeutic resources employed for individuals with genetic and non-genetic RD in Brazil. The Brazilian Rare Disease Network (BRDN) is under development, comprising 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and five Newborn Screening Reference Services. A retrospective study will be initially conducted, followed by a prospective study. The data collection instrument will use a standard protocol with sociodemographic data and clinical and diagnostic aspects according to international ontology. This great collaborative network is the first initiative of a large epidemiological data collection of RD in Latin America, and the results will increase the knowledge of RD in Brazil and help health managers to improve national public policy on RD in Brazil

Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries

<p>Abstract</p> <p>Background</p> <p>Lynch syndrome (LS) is the most common form of inherited predisposition to colorectal cancer (CRC), accounting for 2-5% of all CRC. LS is an autosomal dominant disease characterized by mutations in the mismatch repair genes mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), postmeiotic segregation increased 1 (PMS1), post-meiotic segregation increased 2 (PMS2) and mutS homolog 6 (MSH6). Mutation risk prediction models can be incorporated into clinical practice, facilitating the decision-making process and identifying individuals for molecular investigation. This is extremely important in countries with limited economic resources. This study aims to evaluate sensitivity and specificity of five predictive models for germline mutations in repair genes in a sample of individuals with suspected Lynch syndrome.</p> <p>Methods</p> <p>Blood samples from 88 patients were analyzed through sequencing MLH1, MSH2 and MSH6 genes. The probability of detecting a mutation was calculated using the PREMM, Barnetson, MMRpro, Wijnen and Myriad models. To evaluate the sensitivity and specificity of the models, receiver operating characteristic curves were constructed.</p> <p>Results</p> <p>Of the 88 patients included in this analysis, 31 mutations were identified: 16 were found in the MSH2 gene, 15 in the MLH1 gene and no pathogenic mutations were identified in the MSH6 gene. It was observed that the AUC for the PREMM (0.846), Barnetson (0.850), MMRpro (0.821) and Wijnen (0.807) models did not present significant statistical difference. The Myriad model presented lower AUC (0.704) than the four other models evaluated. Considering thresholds of ≥ 5%, the models sensitivity varied between 1 (Myriad) and 0.87 (Wijnen) and specificity ranged from 0 (Myriad) to 0.38 (Barnetson).</p> <p>Conclusions</p> <p>The Barnetson, PREMM, MMRpro and Wijnen models present similar AUC. The AUC of the Myriad model is statistically inferior to the four other models.</p

FMRP unida por um semestre melhor: narrativas de um pacto que celebra valores humanos e compromissos coletivos durante a pandemia da Covid-19

A pandemia da COVID-19 impactou a educação superior de diversas formas, demandando criatividade e resiliência no seu enfrentamento. Além dos novos desafios, o cenário induzido pela crise sanitária também agudizou problemas pré-existentes, principalmente no que se refere às relações humanas dentro da universidade, à equidade no acesso a recursos educacionais e à capacitação para o desenvolvimento profissional, qualidade de vida e o cuidado com as pessoas, entre tantos outros desafios. Nesse contexto, em busca de respostas para os problemas apresentados, diferentes centros e comissões da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (FMRP-USP) se uniram e propuseram a celebração do Pacto “FMRP: UNIDA POR UM SEMESTRE MELHOR”. O Pacto foi proposto para reafirmar os valores da instituição, fortalecer as relações e a rede de suporte às pessoas e aos processos, minimizar o estresse e o impacto na saúde e bem-estar de estudantes, funcionários e professores. O objetivo deste relato é apresentar os termos e condições que tornaram o Pacto possível, como estratégias utilizadas para sua execução, ações integradas de diferentes setores, comunicação qualificada visando responder às necessidades da comunidade acadêmica. O pacto promoveu ações para garantir acesso a recursos para ensino e aprendizagem, capacitação profissional e cuidado nas relações interpessoais e entre os diferentes setores da instituição. O Pacto nasceu no contexto da pandemia e chamou atenção para a necessidade constante de aprimorarmos nossas relações, de investir no diálogo e na integração. Já não se trata de ações para “um semestre melhor”, mas de compromissos e valores que reafirmamos e devem seguir conosco seja qual for o contexto e situação.The COVID-19 pandemic impacts on higher education in several ways, demanding creativity, and resilience in facing it. In addition to the new challenges, the scenario induced by the health crisis has also aggravated pre-existing problems, especiallywith regard to human relations within the university, equity in access to educational resources and training for professional development, quality of life and caring for people, among many other challenges. In this context, in search for answers to the challenges presented, different FMRP centers and committees came together and proposed the celebration of the Pact &amp;quot;FMRP: UNIFIED FOR A BETTER SEMESTER&amp;quot;. The Pact was proposed to reaffirm the institution&amp;#39;s values, strengthenrelationships and support network, minimize stress and the impact of this new reality on the health and well-being of students, staff and teachers. The purpose of this report is to present the terms and conditions that made the Pact possible, thestrategies used for its execution, with integrated actions from different sectors, qualified communication, responding to the needs of the academic community. The purpose of this report is to present the terms and conditions that made the Pactpossible, the strategies used for its execution, with integrated actions from different sectors, qualified communication, responding to the needs of the academic community. The pact has enabled actions to guarantee access to resources for teaching and learning, professional training and care, in addition to strengthening interpersonal relationships and between different sectors of the institution. The Pactwas born in the context of the pandemic, but it calls our attention to the constant need to improve our relations, to invest in dialogue and integration. We are no longer dealing with actions for “a better semester”, but with commitments and values that wewill continue to reaffirm

A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and microsatellite analysis showed heterozygous loci inside and outside the 15q11-13 region. The presence of these atypical cases could be more frequent than previously expected and we reinforce that the DNA methylation analysis is important for the correct diagnosis of severe mental deficiency, congenital hypotonia and obesity

Self-reported cancer family history is a useful tool for identification of individuals at risk of hereditary cancer predisposition syndrome at primary care centers in middle-income settings: a longitudinal study

Abstract Analysis of cancer family history (CFH) offers a low-cost genetic tool to identify familial cancer predisposition. In middle-income settings, the scarcity of individual records and database-linked records hinders the assessment of self-reported CFH consistency as an indicator of familial cancer predisposition. We used self-reported CFH to identify those families at risk for hereditary cancer syndromes in community-based primary care centers of a low-income Brazilian area. We also evaluated the consistency of the information collected by reassessing CFH five years later. We interviewed 390 families and constructed their pedigrees for genetic cancer risk assessment. We found 125 families affected by cancer, 35.2% with moderate to high risk of familial susceptibility to cancer, a number that represents a relatively high prevalence of potential hereditary cancer syndromes in the overall study sample. Upon reassessment of CFH in 14/20 families that were previously identified as having at least one first-degree and one second-degree relative affected by cancer, and presented moderate to high risk for developing cancer, 90% of initial pedigrees were confirmed. These results demonstrate the reliability of self-reports as a means of early identification of healthy individuals at risk, encouraging the wider use of this method in low- and middle-income primary care settings