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Abstract
O câncer colorretal (CCR) é uma das neoplasias mais prevalentes no mundo, com uma etiologia multifatorial que envolve fatores genéticos e epigenéticos. No CCR hereditário, como na síndrome de Lynch, mutações em genes de reparo do DNA aumentam significativamente o risco da doença. Já no CCR esporádico, alterações epigenéticas, como a hipermetilação do promotor de genes supressores tumorais, contribuem para a instabilidade genômica e a progressão tumoral. Além da predisposição genética, fatores ambientais, como dieta, obesidade e inflamação crônica, desempenham um papel fundamental na modulação da expressão gênica e nas modificações epigenéticas associadas ao desenvolvimento da neoplasia. O rastreamento precoce, principalmente por meio da colonoscopia, é essencial para a redução da incidência e da mortalidade, especialmente em indivíduos com predisposição genética. Avanços na identificação de biomarcadores genéticos e epigenéticos possibilitam um diagnóstico mais precoce e uma abordagem terapêutica personalizada, incluindo o uso de imunoterapias e estratégias de quimioprevenção. Dessa forma, a compreensão integrada dos fatores genéticos e epigenéticos no CCR contribui para um manejo mais eficaz da doença, permitindo melhores desfechos clínicos e reduzindo seu impacto na saúde pública.
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