Copy Number Variations as Determinants of Colorectal Tumor Progression in Liquid Biopsies

Over the years, increasing evidence has shown that copy number variations (CNVs) play an important role in the pathogenesis and prognosis of Colorectal Cancer (CRC). Colorectal adenomas are highly prevalent lesions, but only 5% of these adenomas ever progress to carcinoma. This review summarizes the...

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Main Authors: Jessica Debattista, Laura Grech, Christian Scerri, Godfrey Grech
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/24/2/1738
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author Jessica Debattista
Laura Grech
Christian Scerri
Godfrey Grech
author_facet Jessica Debattista
Laura Grech
Christian Scerri
Godfrey Grech
author_sort Jessica Debattista
collection DOAJ
description Over the years, increasing evidence has shown that copy number variations (CNVs) play an important role in the pathogenesis and prognosis of Colorectal Cancer (CRC). Colorectal adenomas are highly prevalent lesions, but only 5% of these adenomas ever progress to carcinoma. This review summarizes the different CNVs associated with adenoma-carcinoma CRC progression and with CRC staging. Characterization of CNVs in circulating free-RNA and in blood-derived exosomes augers well with the potential of using such assays for patient management and early detection of metastasis. To overcome the limitations related to tissue biopsies and tumor heterogeneity, using CNVs to characterize tumor-derived materials in biofluids provides less invasive sampling methods and a sample that collectively represents multiple tumor sites in heterogeneous samples. Liquid biopsies provide a source of circulating tumor DNA (ctDNA), circulating tumor cells (CTCs), tumor-derived exosomes (TDE), circulating free RNA, and non-coding RNA. This review provides an overview of the current diagnostic and predictive models from liquid biopsies.
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spelling doaj.art-5e5f5402380944d0ae2eefdb19a2f4b92023-11-30T22:44:54ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-01-01242173810.3390/ijms24021738Copy Number Variations as Determinants of Colorectal Tumor Progression in Liquid BiopsiesJessica Debattista0Laura Grech1Christian Scerri2Godfrey Grech3Department of Pathology, Faculty of Medicine and Surgery, University of Malta, MSD 2080 Msida, MaltaDepartment of Pathology, Faculty of Medicine and Surgery, University of Malta, MSD 2080 Msida, MaltaDepartment of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, MSD 2080 Msida, MaltaDepartment of Pathology, Faculty of Medicine and Surgery, University of Malta, MSD 2080 Msida, MaltaOver the years, increasing evidence has shown that copy number variations (CNVs) play an important role in the pathogenesis and prognosis of Colorectal Cancer (CRC). Colorectal adenomas are highly prevalent lesions, but only 5% of these adenomas ever progress to carcinoma. This review summarizes the different CNVs associated with adenoma-carcinoma CRC progression and with CRC staging. Characterization of CNVs in circulating free-RNA and in blood-derived exosomes augers well with the potential of using such assays for patient management and early detection of metastasis. To overcome the limitations related to tissue biopsies and tumor heterogeneity, using CNVs to characterize tumor-derived materials in biofluids provides less invasive sampling methods and a sample that collectively represents multiple tumor sites in heterogeneous samples. Liquid biopsies provide a source of circulating tumor DNA (ctDNA), circulating tumor cells (CTCs), tumor-derived exosomes (TDE), circulating free RNA, and non-coding RNA. This review provides an overview of the current diagnostic and predictive models from liquid biopsies.https://www.mdpi.com/1422-0067/24/2/1738CRCCNVliquid biopsiesexosomesctDNACTC
spellingShingle Jessica Debattista
Laura Grech
Christian Scerri
Godfrey Grech
Copy Number Variations as Determinants of Colorectal Tumor Progression in Liquid Biopsies
International Journal of Molecular Sciences
CRC
CNV
liquid biopsies
exosomes
ctDNA
CTC
title Copy Number Variations as Determinants of Colorectal Tumor Progression in Liquid Biopsies
title_full Copy Number Variations as Determinants of Colorectal Tumor Progression in Liquid Biopsies
title_fullStr Copy Number Variations as Determinants of Colorectal Tumor Progression in Liquid Biopsies
title_full_unstemmed Copy Number Variations as Determinants of Colorectal Tumor Progression in Liquid Biopsies
title_short Copy Number Variations as Determinants of Colorectal Tumor Progression in Liquid Biopsies
title_sort copy number variations as determinants of colorectal tumor progression in liquid biopsies
topic CRC
CNV
liquid biopsies
exosomes
ctDNA
CTC
url https://www.mdpi.com/1422-0067/24/2/1738
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AT christianscerri copynumbervariationsasdeterminantsofcolorectaltumorprogressioninliquidbiopsies
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