Up to 5% of all cases of colorectal cancer (CRC) are due to a known hereditary syndrome. These hereditary forms often require a high degree of suspicion for their diagnosis and specific and specialized management. Moreover, a diagnosis of hereditary CRC has important consequences, not only for patients-for whom highly effective preventive measures are available-, but also for their relatives, who may be carriers of the same condition. The most significant advances in the field of hereditary CRC have been produced in the diagnosis and characterization of these syndromes and in the discovery of new causative genes.
Keywords: Cáncer colorrectal hereditario; Familial adenomatous polyposis; Hereditary colorectal cancer; Hyperplastic polyposis syndrome; Lynch syndrome; POLD1; POLE; Poliposis adenomatosa familiar; Poliposis serrada; Pólipo serrado; Serrated polyp; Serrated polyposis; Síndrome de Lynch; Síndrome de poliposis hiperplásica.
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