Abstract
Our understanding of the genetics of colorectal cancer has changed dramatically over
recent years. Colorectal cancer can be classified in multiple different ways. Along
with the advent of whole-exome sequencing, we have gained an understanding of the
scale of the genetic changes found in sporadic colorectal cancer. We now know that
there are multiple pathways that are commonly involved in the evolution of colorectal
cancer including Wnt/β-catenin, RAS, EGFR, and PIK3 kinase. Another recent leap in
our understanding of colorectal cancer genetics is the recognition that many, if not
all tumors, are actually genetically heterogeneous within individual tumors and also
between tumors. Recent research has revealed the prognostic and possibly therapeutic
implications of various specific mutations, including specific mutations in BRAF and KRAS. There is increasing interest in the use of mutation testing for screening and surveillance
through stool and circulating DNA testing. Recent advances in translational research
in colorectal cancer genetics are dramatically changing our understanding of colorectal
cancer and will likely change therapy and surveillance in the near future.
Keywords
colorectal cancer - exome sequencing - hyper-mutated tumors - intra-tumor heterogeneity
