Recent advances in colorectal cancer genetics and diagnostics.

摘要

Colorectal cancer (CRC) is one of the most prevalent cancers and leading cause of cancer mortality worldwide. It is also one of the most curable cancers if detected early. This review classifies the diverse disease subtypes using various parameters including phenotypes of the polyps and describes how recent advances in genetics have impacted on disease diagnostics. For familial syndromes, the discovery of initiating mutations in the germline made personalized medicine a reality. A model linking the main tumorigenesis (Wnt/TGF-beta-BMP/LKB-1/PI3K-AKT) pathways and a strategy for gene testing are proposed. For sporadic CRC, high throughput technology has enabled the discovery of susceptibility loci that increased CRC risk. The ramifications of screening the population for susceptibility loci are discussed.