Hereditary Cancer Syndromes
Mostrando 1-12 de 19 artigos, teses e dissertações.
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1. Consideration in the management of renal cell carcinoma during the COVID-19 Pandemic
ABSTRACT Introduction: Recently the COVID-19 pandemic became the main global priority; main efforts and health infrastructures have been prioritized in favor of COVID-19 battle and the treatment of benign diseases has been postponed. Renal cell cancer (RCC) patients configure a heterogenous populations: some of them present indolent cases which can safely h
Int. braz j urol.. Publicado em: 2020-07
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2. The Social, Economic and Sanitary Impact of COVID-19 Pandemic
ABSTRACT Introduction: Recently the COVID-19 pandemic became the main global priority; main efforts and health infrastructures have been prioritized in favor of COVID-19 battle and the treatment of benign diseases has been postponed. Renal cell cancer (RCC) patients configure a heterogenous populations: some of them present indolent cases which can safely h
Int. braz j urol.. Publicado em: 2020-07
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3. Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance
ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize
Arch. Endocrinol. Metab.. Publicado em: 29/07/2019
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4. Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
Abstract Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA r
Genet. Mol. Biol.. Publicado em: 10/06/2019
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5. Urological cancer related to familial syndromes
ABSTRACT Cancer related to hereditary syndromes corresponds to approximately 5-10% of all tumors. Among those from the genitourinary system, many tumors had been identified to be related to genetic syndromes in the last years with the advent of new molecular genetic tests. New entities were described or better characterized, especially in kidney cancer such
Int. braz j urol.. Publicado em: 2017-04
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6. 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 t
Genet. Mol. Biol.. Publicado em: 03/06/2016
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7. Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil
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, o
Genet. Mol. Biol.. Publicado em: 24/05/2016
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8. Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care
Background: Breast cancer is a significant public health problem worldwide and the development of tools to identify individuals at-risk for hereditary breast cancer syndromes, where specific interventions can be proposed to reduce risk, has become increasingly relevant. A previous study in Southern Brazil has shown that a family history suggestive of these s
Publicado em: 2010
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9. Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil
In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the prevalence of hereditary breast cancer phenotypes and evaluate acceptance of a genetic cancer risk assessment (GCRA) program. Women from
Publicado em: 2010
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10. Risk perception for cancer and preventive behaviors in a sample of clients attending an outpatient cancer genetic counseling clinic / Percepção de risco para câncer e comportamentos preventivos em uma amostra de usuários de um ambulatório de aconselhamento genético oncológico
This study researched the perception of risk for developing cancer and preventive behaviors of individuals with suspect of hereditary cancer syndromes. It aimed to describe the perception of risk and causes of the main neoplasms related to hereditary cancer syndromes in a sample of users of a genetic counseling service for cancer; to associate behaviors adop
Publicado em: 2010
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11. Avaliação das alterações do gene VHL nos carcinomas renais de células claras associados à síndrome de von Hippel-Lindau
A Síndrome de von Hippel-Lindau é uma doença hereditária multissistêmica, causada por mutações germinativas no gene VHL que predispõe o portador a manifestações benignas e malignas em diversos órgãos. Entre esses eventos, o carcinoma de células claras renais (CRC) é o de pior prognóstico, com uma penetração média de 25% e sendo a principal
Publicado em: 2010
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12. Pancreatic adenocarcinoma: epidemiology and genetics.
Pancreatic adenocarcinoma is an important cause of death from cancer throughout the developed world. There are few established environmental risk factors, but a previous history of pancreatitis and exposure to tobacco and salted food appear to be the most important. A family history of pancreatic adenocarcinoma is not common in patients with this disease, bu