Molecular methods in cancer diagnostics: a short review

Figures & data

Figure 1. Typical workflow for ddPCR in cancer liquid biopsies (Adapted from Ugur Gezer et al.) [22].

Figure 2. Real-time PCR-based with regard quantifying (Adapted from Bernard PS et al.) [15].

Figure 3. RT-PCR (Adapted from Skondra M et al.) [25].

Figure 4. Maxam-Gilbert DNA sequencing method (Adapted from Thermo Fisher Scientific: DNA Sequencing Technologies–History and Overview) [30].

Figure 5. Sanger DNA sequencing method (Adapted from Thermo Fisher Scientific: DNA Sequencing Technologies–History and Overview) [30].

Figure 6. Capillary electrophoresis (Adapted from Thermo Fisher Scientific: DNA Sequencing Technologies–History and Overview) [30].

Figure 7. (A) Technology for Ion Torrent sequencing and (B) technology for Illumina sequencing (Adapted from Thermo Fisher Scientific: DNA Sequencing Technologies–History and Overview) [30].

Figure 8. (A) The technology of SMRT sequencing and (B) the technology of nanopore sequencing (Adapted from Thermo Fisher Scientific: DNA Sequencing Technologies–History and Overview) [30].

Figure 9. Profiling protein expression using microfluidic western blotting in circulating tumour cells (Adapted from Sinkala E et al.) [54].

Figure 10. FISH (Adapted from Shakoori AR) [57].

Figure 11. The CGH principle (Adapted from Weiss MM et al.) [64].

Figure 12. CGH was used to analyze the diversity of tumors and the sorts of reports (1992–1998) (Adapted from Weiss MM et al.) [64].

Figure 13. The process of SNPs-seq. (Adapted from Zhang P et al.) [71].

Figure 14. Workflow in proteomic studies in cervical cancer (Adapted from Ding Z et al.) [72].

Table 1. Advantages, disadvantages and outcomes of molecular techniques in cancer genetics.

Techniques and technical studies included	Advantages	Disadvantages	Outcomes
Polymerase Chain Reaction (PCR) R. Maheaswari et al. [86]	- Sensitive detection of mutations	- Limited to known mutations - Risk of contamination	Widely applied for detecting genetic alterations in cancer
Maxam-Gilbert Sequencing Method S. Dwivedi et al. [87]	- Base-specific sequencing for mutation analysis	- Radioactive chemicals - Labor-intensive	Early identification of cancer-associated genetic mutations
Sanger Sequencing Method M. Rossing et al. [88]	- Accurate sequencing for mutation detection	- Limited throughput - Labor-intensive	Fundamental in discovering genetic mutations linked to cancers
Automated Sequencing Method J. M. Churko at al [89]	- High-throughput mutation screening	- Expensive equipment - Technical complexity	Accelerated identification of mutations in cancer-related genes
Next Generation Sequencing Method L. Ding et al. [90]	- Comprehensive genomic profiling	- Short read lengths - Data analysis challenges	Revolutionized cancer genomics, enabling large-scale studies
Single-Molecule Real-Time Technology L. Ding et al. [90]	- Long read lengths for detailed mutation analysis	- High error rates - Costly consumables	Improved characterization of complex genetic alterations in cancer
Western Blotting W. M. Freeman and S. E. Hemby et al. [91]	- Protein expression analysis for oncogene detection	- Limited quantification - Time-consuming	Contributed to understanding the role of specific proteins in cancer
Fluorescence in situ Hybridization Z. A. Ratan et al. [56]	- Visualizes chromosomal abnormalities in cancer	- Limited resolution - Requires expertise	Essential for identifying structural changes in cancer genomes
Comparative Genomic Hybridization N. A. Bergamo et al. [92]	- Detects chromosomal imbalances in cancer	- Low resolution - Limited ability to detect small changes	Revealed genomic instability and copy number variations in cancer
Proteomic Technique K. Chandramouli et al. [93]	- Comprehensive analysis of cancer proteome	- Data interpretation challenges - Technical complexities	Enhanced understanding of protein alterations in cancer progression
Immunohistochemistry L. L. de Matos et al. [94]	- Visualizes specific proteins in cancer tissues	- Subjective analysis - Limited quantitative data	Crucial for identifying protein biomarkers and tumor subtypes
Circulating Tumour DNA Analysis F. Cheng et al. [95]	- Non-invasive detection of circulating cancer DNA	- Low abundance - Specificity challenges	Revolutionized liquid biopsy for monitoring cancer progression

Figure 15. Overview of liquid breast cancer biopsy (Adapted from Hacking SM et al.) [96].

Figure 16. The chromatin immunoprecipitation (ChIP) assay (Adapted from Collas P et al.) [82].

Figure 17. Genome sequencing and ‘a priori’ methods: contrast and use (Adapted from Buono G et al.) [44].

Figure 18. Flow chart representation of molecular methods in cancer diagnostics.

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Data availability statement

Upon a reasonable request, the corresponding author [Dr. Jaishriram Rathored] will provide the data supporting the review’s conclusions.