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Clin Colon Rectal Surg 2018; 31(03): 147-152
DOI: 10.1055/s-0037-1602234
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Update on Sporadic Colorectal Cancer Genetics

Karin M. Hardiman
1   Division of Colon and Rectal Surgery, Department of Surgery, University of Michigan, Ann Arbor, Michigan
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Publication Date:
01 April 2018 (online)

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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