Effects of cancer mutations
Cancer is a mutational disease of the somatic genome. As the genome acquires more and more mutations, two things can happen.
- Cells can acquire mutations that allow them to divide faster and survive some insults better. This means they might have fewer metabolic requirements, dodge the immune system better, or evade therapeutic treatments.
- However, this comes with a price – the acquisition of mutations in other genes, unrelated to selective advantage, might ultimately make them less fit.
By analyzing the advantageous mutations, as well as the disadvantageous mutations, cancer researchers have an opportunity to devise strategies for controlling the growth of these cells.
The suite of mutations acquired by precancerous and cancerous cells may be random, or at least fall into general semirandom groupings. Thus, there can be variations in the mutational make-up from individual to individual. To fully understand and research treatments for a cancer, it is important to determine the genomic make-up of the cancerous cells. However, obtaining tumor biopsies are often painful and difficult for both the physician and the patient.
Figure 1. Results from discovery-based sequencing analyses, such as Next Generation sequencing, of tumor biopsies often need to be confirmed using orthogonal technologies such as dPCR.
Figure 2. Mutant alleles can be monitored with high sensitivity and precision by using dPCR on non-invasive blood collections
Liquid biopsies for non-invasive research
Because the cancerous cells can have mutations that make them less fit for survival, cancer patients often have higher levels of products produced by these dead or dying cells in their circulation. These components can include individual cells, extracellular vesicles, or free DNA and RNA. Because of this, there has been a lot of interest in liquid biopsies – non-invasive techniques that harvest these molecular components for use in cancer research (for a recent review, see Figure 1).
The Thermo Fisher Scientific portfolio provides solutions for researchers at every stage of personalized cancer research using liquid biopsies. Typically, researchers will perform an unbiased query of mutations present in a tumor sample. This will then be used to inform them on which mutations to follow using non-invasive liquid biopsies (Figure 2).
Learning resources on liquid biopsies
Learn Analysis of Mutant Alleles in Liquid Biopsies: from Discovery to Monitoring in a recent on-demand webinar on how these powerful technologies have propelled some key human disease research areas and opened opportunities for new applications in the research landscape.
In the recently published e-book, “Understanding Cancer with Predictive Genomics”, Dr. Atocha Romero of Hospital Universitario Puerto de Hierro in Madrid describes her strategy and success using liquid biopsies for personalized cancer research. As Director of the Liquid Biopsy unit, Dr. Romero also has been analyzing sequences in liquid biopsies from lung tumors using the sequencing-to-digital PCR workflow (3), most recently using the Absolute Q system.
More details of her work, as well as interviews and descriptions of the Thermo Fisher Scientific portfolio, has been extensively covered in our new eBook.
Download our new eBook and to learn about:
- Incorporating genomics in personalized cancer medicine; oncogenes and tumor suppressor genes
- Defeating cancer with molecular approaches; identifying gene variants
- Decoding cancer signatures from extracellular vesicles; their interaction with normal cells
- Circulating tumor DNA predicts patient survival in lung cancer; liquid biopsy and engineering circular RNA
- Genetic analysis technologies to support cancer research; discovery, focus, and detection
- Lone, S.N., et al. Liquid biopsy: a step closer to transform diagnosis, prognosis and future of cancer treatments. Mol Cancer 21, 79 (2022).
- Taylor C et al. Peptide-Affinity Precipitation of Extracellular Vesicles and Cell-Free DNA Improves Sequencing Performance for the Detection of Pathogenic Mutations in Lung Cancer Patient Plasma. Int J Mol Sci. 2020 Nov 29;21(23):9083. doi: 10.3390/ijms21239083.
- Romero A, et al. Use of Liquid Biopsy in the Care of Patients with Non-Small Cell Lung Cancer. Curr Treat Options Oncol. 2021 Aug 23;22(10):86. doi: 10.1007/s11864-021-00882-9.
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