Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine.

ABSTRACT: This article reviews genes and syndromes associated with predisposition to colorectal cancer (CRC), with an overview of gene variant classification. We include updates on the application of preventive and therapeutic measures, focusing on the use of non-steroidal anti-inflammatory drugs (NSAIDs) and immunotherapy. Germline pathogenic variants in genes conferring high or moderate risk to cancer are detected in 6-10% of all CRCs and 20% of those diagnosed before age 50. CRC syndromes can be subdivided into nonpolyposis and polyposis entities, the most common of which are Lynch syndrome and familial adenomatous polyposis, respectively. In addition to known and novel genes associated with highly penetrant CRC risk, identification of pathogenic germline variants in genes associated with moderat

SUBMITTER: Valle L 

PROVIDER: S-EPMC6747691 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature