Single nucleotide polymorphisms and colorectal neoplasia risk: Updates and impact

Polymorphisms in genes related to various endogenous pathways (eg, metabolic, detoxification, and DNA repair) have been linked to colorectal cancer risk. To date, much of the literature has focused on the study of single nucleotide polymorphisms (SNPs) in DNA repair pathways (eg, base excision repair and nucleotide excision repair). Over the past years, SNPs within known cancer risk loci and in pathways related to onecarbon metabolism, infl ammation or Inflammatory mediators, and leptin signaling (among others) have expanded our understanding of how polymorphic variation across several genes and pathways infl uences disease risk. Work from our group explores how variants of the adenomatous polyposis coli (APC) gene and the CD24 gene impact colorectal neoplasia risk. Despite brisk research in this area, clinical applicability remains limited. This article includes an up-to-date review (2007-present) of several studies examining polymorphisms and colorectal neoplasia risk, a discussion of recent findings in the assessment of colorectal neoplasia risk associated with the APC I1307K and E1317Q variants from our group, and finally a brief assessment of the impact of polymorphism research on clinical practice to date.