Monogenic predisposition to colorectal cancer: features of carcinogenesis and translational aspects

Objective: to summarize existing information on hereditary types of colorectal cancer.

Material and Methods. A literature search was conducted in the Medline, Cochrane Library, and Elibrary databases, including publications from January 2002 to October 2025. Out of 3000 studies found, 79 were used to write this systematic review.

Results. Well-known hereditary colorectal cancer (CRC) varieties account for up to 4-5 % of all colorectal cancer cases. In addition to familial adenomatous polyposis, Lynch syndrome, and MUTYH-associated polyposis, at least 15 other, rarer nosological forms of hereditary CRC can be identified. Each of these diseases has a distinct clinical presentation and biological nature. These characteristics lead to differences in approaches to the prevention and treatment of various hereditary CRC subtypes. Unlike most hereditary tumor syndromes of other sites, which are typically autosomal dominant, some types of CRC are inherited via an autosomal recessive mechanism. The study of hereditary CRC contributes to the development of new approaches for treating sporadic colorectal tumors with somatic mutations in the same genes.

Conclusion. This review provides detailed information on the genetic causes, mechanisms of carcinogenesis, and clinical features of both well-known and recently discovered types of hereditary CRC.

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