RESUMEN
Hereditary breast cancer (HBC) accounts for 5-10% of breast cancer cases and it significantly increases the lifetime risk of cancer. Our objective was to evaluate the sociodemographic variables, family history of cancer, breast cancer (BC) screening practices and the risk profile of cancer affected or asymptomatic at-risk women that undergo genetic counseling for hereditary breast cancer in public Brazilian cancer genetics services. Estimated lifetime risk of BC was calculated for asymptomatic women using the Gail and Claus models. The majority of women showed a moderate lifetime risk of developing BC, with an average risk of 19.7% and 19.9% by the Gail and Claus models, respectively. The average prior probability of carrying a BRCA1/2 gene mutation was 16.7% and overall only 32% fulfilled criteria for a hereditary breast cancer syndrome as assessed by family history. We conclude that a significant number of individuals at high-risk for HBC syndromes may not have access to the benefits of cancer genetic counseling in these centers. Contributing factors may include insufficient training of healthcare professionals, disinformation of cancer patients; difficult access to genetic testing and/or resistance in seeking such services. The identification and understanding of these barriers is essential to develop specific strategies to effectively achieve cancer risk reduction in this and other countries were clinical cancer genetics is not yet fully established.
Asunto(s)
Proteína BRCA2/genética , Neoplasias de la Mama/genética , Asesoramiento Genético/estadística & datos numéricos , Pruebas Genéticas/estadística & datos numéricos , Síndromes Neoplásicos Hereditarios/genética , Ubiquitina-Proteína Ligasas/genética , Adolescente , Adulto , Anciano , Proteínas Reguladoras de la Apoptosis , Brasil , Neoplasias de la Mama/epidemiología , Estudios Transversales , Análisis Mutacional de ADN , Femenino , Tamización de Portadores Genéticos , Humanos , Persona de Mediana Edad , Síndromes Neoplásicos Hereditarios/epidemiología , Neoplasias Ováricas/epidemiología , Neoplasias Ováricas/genética , Probabilidad , Riesgo , Medición de Riesgo , Factores SocioeconómicosRESUMEN
O crescimento das inovações tecnológicas na área da computação, nas imagens digitais de alta resolução, na robótica e na internet tiveram grande impacto na forma como a informação passou a ser disponibilizada na medicina. Apresentamos um enfoque sobre as várias formas e aplicações da telemedicina como tele-educação, tele-asssistência, custo-efetividade e como este modelo se apresenta dentro do Brasil. No Hospital de Clínicas de Porto Alegre (HCPA), o Serviço de Dermatologia visa a integrar a telemedicina no currículo da Faculdade de Medicina da Universidade Federal do Rio Grande do Sul através do projeto Cybertutor aplicado ao ensino da Dermatologia.
The growth of technological innovations in computer science, high-resolution digital image compression, robotics and Internet had a great impact in the process of delivering medical information. We present a report that focus on the wide range of types and applications of telemedicine, such as tele-education, tele-health care, cost-effectiveness e the way this model is present in Brazil. At Hospital de Clínicas de Porto Alegre, the Dermatology Department aims to integrate telemedicine in the educational curriculum of the Medical School, through the use of the Cybertutor plataform for teaching Dermatology.