Colorectal cancer screening and diagnosis: omics-based technologies for development of a non-invasive blood-based method

Gallardo-Gómez, María; Chiara, Loretta De; Álvarez-Chaver, Paula; Cubiella, Joaquín

doi:10.1080/14737140.2021.1882858

Cited by 10 publications

(15 citation statements)

References 133 publications

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“…These cfDNA and cfRNA can be circulating tumour DNA or RNA (ctDNA and ctRNA), which can come from tumour cells, tumour circulating cells (CTCs), and EVs. Complementarily, different proteins and metabolites released into the blood circulation can be detected [78].…”

Section: Blood Samplesmentioning

confidence: 99%

“…In fact, metastatic CRC presents less fragmented cfDNA compared to primary CRC [81]. In addition, KRAS, APC, and TP53 are the most featured genes with mutations after the analysis of the Idylla panel (KRAS, NRAS, and BRAF mutations, and characterization of MSI), the PlasmaSELECT-R panel (sequence alterations and translocations in 63 genes), the Guardant360 panel (point mutations in 70 genes and identification of gene fusions, insertions and deletions), the OncoBEAM panel (CRC-specific mutations), and the MassDetect CRC panel [78,82]. Furthermore, MSI is detected in 15% of CRCs and associated with defects in DNA mismatch repair genes [83].…”

Section: Genomicsmentioning

confidence: 99%

“…Finally, it is important to consider the epigenetic signature. The use of different commercial tests, such as Epi proColon 2.0 (Epigenomics) or RealTime ms9 (Abbptt), has identified various hypermethylation sites (BCAT1 and IKZF1) [78] and aberrant methylation in numerous genes (APC, MLH1, FRP2, NGFR) and gene promoters [76,78]. Nonetheless, the most promising potential epigenetic biomarker is the SEPT9 gene, which has shown 90% of sensitivity and 88% of specificity [76,78].…”

Section: Genomicsmentioning

confidence: 99%

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Use of Omics Technologies for the Detection of Colorectal Cancer Biomarkers

Alorda-Clara

Torrens‐Mas

Morla-Barcelo

et al. 2022

Cancers

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Colorectal cancer (CRC) is one of the most frequently diagnosed cancers with high mortality rates, especially when detected at later stages. Early detection of CRC can substantially raise the 5-year survival rate of patients, and different efforts are being put into developing enhanced CRC screening programs. Currently, the faecal immunochemical test with a follow-up colonoscopy is being implemented for CRC screening. However, there is still a medical need to describe biomarkers that help with CRC detection and monitor CRC patients. The use of omics techniques holds promise to detect new biomarkers for CRC. In this review, we discuss the use of omics in different types of samples, including breath, urine, stool, blood, bowel lavage fluid, or tumour tissue, and highlight some of the biomarkers that have been recently described with omics data. Finally, we also review the use of extracellular vesicles as an improved and promising instrument for biomarker detection.

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Section: Blood Samplesmentioning

confidence: 99%

Section: Genomicsmentioning

confidence: 99%

Section: Genomicsmentioning

confidence: 99%

See 1 more Smart Citation

Use of Omics Technologies for the Detection of Colorectal Cancer Biomarkers

Alorda-Clara

Torrens‐Mas

Morla-Barcelo

et al. 2022

Cancers

View full text Add to dashboard Cite

show abstract

“…Additionally, several studies have indicated that blood samples have emerged as a reliable source of biomarkers [ 127 , 128 ]. Accordingly, cancer-related miRNAs, either CEx-miRNAs or cancer-derived cell-free miRNAs (cf-miRNAs), from blood represents a promising target for more accessible and non-invasive testing [ 129 , 130 ].…”

Section: Cex-mirnas For Crc Diagnosismentioning

confidence: 99%

CRISPR/Cas13-Based Platforms for a Potential Next-Generation Diagnosis of Colorectal Cancer through Exosomes Micro-RNA Detection: A Review

Durán-Vinet

Araya‐Castro

Calderón

et al. 2021

Cancers

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Colorectal cancer (CRC) is the third most prevalent cancer with the second highest mortality rate worldwide. CRC is a heterogenous disease with multiple risk factors associated, including obesity, smoking, and use of alcohol. Of total CRC cases, 60% are diagnosed in late stages, where survival can drop to about 10%. CRC screening programs are based primarily on colonoscopy, yet this approach is invasive and has low patient adherence. Therefore, there is a strong incentive for developing molecular-based methods that are minimally invasive and have higher patient adherence. Recent reports have highlighted the importance of extracellular vesicles (EVs), specifically exosomes, as intercellular communication vehicles with a broad cargo, including micro-RNAs (miRNAs). These have been syndicated as robust candidates for diagnosis, primarily for their known activities in cancer cells, including immunoevasion, tumor progression, and angiogenesis, whereas miRNAs are dysregulated by cancer cells and delivered by cancer-derived exosomes (CEx). Quantitative polymerase chain reaction (qPCR) has shown good results detecting specific cancer-derived exosome micro-RNAs (CEx-miRNAs) associated with CRC, but qPCR also has several challenges, including portability and sensitivity/specificity issues regarding experiment design and sample quality. CRISPR/Cas-based platforms have been presented as cost-effective, ultrasensitive, specific, and robust clinical detection tools in the presence of potential inhibitors and capable of delivering quantitative and qualitative real-time data for enhanced decision-making to healthcare teams. Thereby, CRISPR/Cas13-based technologies have become a potential strategy for early CRC diagnosis detecting CEx-miRNAs. Moreover, CRISPR/Cas13-based platforms’ ease of use, scalability, and portability also showcase them as a potential point-of-care (POC) technology for CRC early diagnosis. This study presents two potential CRISPR/Cas13-based methodologies with a proposed panel consisting of four CEx-miRNAs, including miR-126, miR-1290, miR-23a, and miR-940, to streamline novel applications which may deliver a potential early diagnosis and prognosis of CRC.

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“…However, there is still a demand for new screening tests that would complement FOBT, mainly by detecting at least a part of the FOBT-negative CRC and adenoma cases, or possibly by identifying person at increased risk of sporadic CRC in order to offer them more frequent periodic screening. Detection of tumorspecific genetic material, namely detection of microRNA and DNA methylation, represents one group of promising markers 7 , which is, however, out of the scope of this review. Because colonic microbiota is widely accepted to play important role in the development of sporadic CRC, it represents another source of potential CRC screening marker.…”

Section: Introductionmentioning

confidence: 99%