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Revisiones en Cáncer 00129 / http://dx.doi.org/10.20960/revcancer.00129

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Cáncer colorrectal hereditario

Beatriz Grau Mirete, Ana Beatriz Sánchez Heras

Prepublicado: 2026-01-26

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El cáncer colorrectal (CCR) es una de las principales causas de morbilidad y mortalidad por cáncer a nivel mundial. Aunque la mayoría de los casos son esporádicos, entre un 5 y un 10 % presentan una base hereditaria reconocible. La identificación de estos síndromes es crucial para establecer estrategias de prevención, diagnóstico precoz y tratamiento personalizado. El síndrome de Lynch constituye la forma más frecuente de CCR hereditario, seguido de la poliposis adenomatosa familiar (PAF) y la poliposis asociada a MUTYH. Otros síndromes menos frecuentes, entre los que están las poliposis hamartomatosas, completan el espectro genético. En esta revisión se actualizan los conocimientos sobre las bases moleculares, manifestaciones clínicas, diagnóstico y manejo de los principales síndromes de predisposición al cáncer colorrectal, con especial atención al consejo genético y las implicaciones terapéuticas.

Palabras Clave: Cáncer colorrectal hereditario. Síndrome de Lynch. Consejo genético. Poliposis gastrointestinales.

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