Identificação das síndromes hereditárias de câncer no Caparaó capixaba

• Ano de defesa: 2019
• Autor(a) principal: Sartore, Erika Aparecida Silva de Freitas
• Tipo de documento: Tese
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal do Espírito Santo; BR; Doutorado em Biotecnologia; Centro de Ciências da Saúde; UFES; Programa de Pós-Graduação em Biotecnologia Rede Nordeste de Biotecnologia (Renorbio)
• Palavras-chave em Português: Câncer Familiar; Síndrome hereditária de câncer; Síndrome de Li Fraumeni; Triagem oncogenética; Familial cancer; Hereditary Cancer Syndrome; Li-Fraumeni Syndrome; Oncogenetic screening; subject.br-rjbn; Biotecnologia
• Link de acesso: http://repositorio.ufes.br/handle/10/13440

Hereditary cancer syndromes are not commonly detected in clinical practice, even in the most common ones such as hereditary breast and ovarian cancer and intestinal syndromes. In hereditary cancer syndromes with multiple tumors as in Li-Fraumeni / Li Fraumeni-Like (LFS/LFL) identification is even more complex and patients are treated as sporadic cancer cases. There are 4 established criteria for the clinical identification of families, but it is important to develop criteria for population-level screening. Thus, the purpose of this work was the development of a simple screening method for population application focusing on the LFS/LFL. The screening method proposes the selection of families from medical records and application of criteria for LFS/LFL such as Li and Fraumeni, Chompret, Eles and Birch. We identified 66 families with hereditary cancer, 34 with LFS/LFL. The screening method plus Birch criteria were the most efficient in recognizing affected families at the population level compared to the other criteria. Besides, a population prevalence of 103: 100,000 was observed, higher than expected for the Brazilian population. These data suggest a possible founding effect in evaluated region and highlight the importance of conducting training in recognition of disease and the importance of creating methods for conducting population investigations carried out outside the oncological scope since primary care.