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Review
. 2022 Apr 29;14(9):2223.
doi: 10.3390/cancers14092223.

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

Elaine S Tan  1 , Todd C Knepper  2 , Xuefeng Wang  3 , Jennifer B Permuth  1 , Liang Wang  4 , Jason B Fleming  1 , Hao Xie  1
Affiliations
Review

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

Elaine S Tan et al. Cancers (Basel). .

Abstract

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.

Keywords: biomarkers; colorectal cancer; copy number alteration.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Various methods to characterize and quantify copy number alterations are illustrated: fluorescence in situ hybridization (FISH), comparative genome hybridization (CGH), CGH with microarray, low pass whole genome sequencing, and digital droplet PCR. Created with BioRender.com.
Figure 2
Figure 2
Pathway of molecular pathways affected by CNAs and associated response to therapies. Created with BioRender.com.
See this image and copyright information in PMC

References

    1. Sung H., Ferlay J., Siegel R.L., Laversanne M., Soerjomataram I., Jemal A., Bray F. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries. CA Cancer J. Clin. 2021;71:209–249. doi: 10.3322/caac.21660. - DOI - PubMed
    1. Crosetto N., Mitra A., Silva M.J., Bienko M., Dojer N., Wang Q., Karaca E., Chiarle R., Skrzypczak M., Ginalski K., et al. Nucleotide-resolution DNA double-strand break mapping by next-generation sequencing. Nat. Methods. 2013;10:361–365. doi: 10.1038/nmeth.2408. - DOI - PMC - PubMed
    1. Arlt M.F., Ozdemir A.C., Birkeland S.R., Wilson T.E., Glover T.W. Hydroxyurea induces de novo copy number variants in human cells. Proc. Natl. Acad. Sci. USA. 2011;108:17360–17365. doi: 10.1073/pnas.1109272108. - DOI - PMC - PubMed
    1. Mazzagatti A., Shaikh N., Bakker B., Spierings D.C.J., Wardenaar R., Maniati E., Wang J., Boemo M.A., Foijer F., McClelland S.E. DNA replication stress generates distinctive landscapes of DNA copy number alterations and chromosome scale losses. bioRxiv. 2020:743658. doi: 10.1101/743658. - DOI - PMC - PubMed
    1. Brás A., Rodrigues A.S., Rueff J. Copy number variations and constitutional chromothripsis (Review) Biomed. Rep. 2020;13:11. doi: 10.3892/br.2020.1318. - DOI - PMC - PubMed

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