Copy Number Alterations as Novel Biomarkers and Therapeutic Targets in Colorectal Cancer

In colorectal cancer, somatic mutations have played an important role as prognostic and predictive biomarkers, with some also functioning as therapeutic targets. Another genetic aberration that has shown significance in colorectal cancer is copy number alterations (CNAs). CNAs occur when a change to the DNA structure propagates gain/amplification or loss/deletion in sections of DNA, which can often lead to changes in protein expression. Multiple techniques have been developed to detect CNAs, including comparative genomic hybridization with microarray, low pass whole genome sequencing, and digital droplet PCR. In this review, we summarize key findings in the literature regarding the role of CNAs in the pathogenesis of colorectal cancer, from adenoma to carcinoma to distant metastasis, and discuss the roles of CNAs as prognostic and predictive biomarkers in colorectal cancer.

Automated summary

Somatic mutations and copy number alterations (CNAs) play important roles in colorectal cancer, serving as prognostic and predictive biomarkers. CNAs occur when changes in DNA structure result in gain/amplification or loss/deletion of DNA sections, leading to changes in protein expression. Various techniques, including comparative genomic hybridization, low pass whole genome sequencing, and digital droplet PCR, have been developed to detect CNAs. This review summarizes key findings on the role of CNAs in the pathogenesis of colorectal cancer and discusses their roles as prognostic and predictive biomarkers.