Genetic Susceptibility to Colorectal Cancer: A Scoping Review of Low- and Moderate-Penetrant Germline Variants

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Title:Genetic Susceptibility to Colorectal Cancer: A Scoping Review of Low- and Moderate-Penetrant Germline VariantsObjective:The objective of this scoping review is to assess the extent of the literature on low- and moderate-penetrant genetic variants associated with inherited colorectal cancer (CRC) and to evaluate their role in the phenotypic spectrum of CRC. Following the JBI methodology for scoping reviews, a comprehensive search will be conducted across multiple databases (e.g., PubMed, Scopus, Web of Science). Studies will be selected based on predefined inclusion and exclusion criteria. The review will synthesize the findings to assess the evidence on the role of these genetic variants in CRC risk and their associations with the phenotypic spectrum.Primary research question(s):What is the evidence on low- and moderate-penetrant genetic variants associated with inherited colorectal cancer (CRC) risk, and their relationship to the phenotypic spectrum of the disease?Secondary research question(s):1. Which populations have been studied, and are there any population- or ethnicity-specific differences in the frequency/distribution of these variants?3. How do the low- and moderate-penetrant genetic variants relate to the clinicopathological features of CRC?Inclusion and exclusion criteria:This scoping review will include studies on inherited or familial CRC focusing on low- and moderate-penetrant genetic variants and their associations with CRC phenotypes. Only human genetic data, peer-reviewed primary research, systematic reviews, and meta-analyses published in English within the last 15 years will be included. Studies on high-penetrant variants, sporadic CRC, non-genetic factors, commentaries, editorials, and animal studies will be excluded.

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