Familial colorectal cancer. (June 2022) - Mangas-Sanjuan, Carolina
Abstract: The introduction of average-risk colorectal cancer (CRC) screening programs means that many subjects with family history of CRC and without well-described inherited syndromes can benefit from these public health policies. Therefore, the definition of which individuals should be named under the umbrella of the term "familial CRC" should be reconsidered to include only those who are outside of the protection of population-based screening and need to be moved towards a more intensive surveillance strategy. Two subgroups have been reported as having a high enough CRC risk to be included within the term "familial risk of CRC": individuals who have ≥1 first degree relative (FDR) with CRC diagnosed at age <50 years, and those who have ≥2 FDRs with CRC. Colonoscopy-based screening starting at age 40 years is proposed as the most accepted recommendation for these individuals. Finally, the evolution of Lynch syndrome screening from clinical criteria to tumor tissue analysis and new tools for screening pathogenic gene mutations associated with cancer susceptibility in individuals with early-onset CRC might help to reduce misclassification of familial CRC.