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Introduction to Cancer Molecular Markers
Cancer, as a group of complex and prevalent diseases, has always been the focus of biomedical research. In cancer research, molecular markers, as important biomarkers, provide strong support for the early diagnosis, prognosis, and treatment selection of cancer. Molecular markers, at the level of genes, proteins, or metabolites, are specific biomolecules that are closely associated with the occurrence and development of cancer. The expression patterns or structural features of these molecules in cancer cells are significantly different from those in healthy cells, making them potential targets for cancer detection and treatment.
The significance of molecular markers in cancer research is immense. They play a crucial role in assisting scientists in unraveling the mechanisms behind cancer development. Furthermore, these markers serve as indispensable guides for clinical diagnosis and the formulation of therapeutic strategies. As biotechnology continues to advance, an expanding array of molecular markers has been identified and is now widely utilized in clinical cancer practice. The identification and application of these markers have profoundly accelerated the progression of personalized cancer treatment, empowering physicians to create tailored treatment plans based on the unique molecular profiles of patients. This, in turn, enhances treatment effectiveness and mitigates adverse effects.
Types of Cancer Molecular Markers
The landscape of cancer molecular markers is vast and diverse, categorized based on their inherent nature and origin. Below, we discuss some of the most prominent markers associated with various cancer types.
Types of cancer molecular markers
Molecular markers in breast cancer
Breast cancer stands as one of the most prevalent malignancies affecting women, with its molecular markers primarily comprising the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). The expression profile of these markers holds immense significance in prognosticating breast cancer and determining the most suitable treatment pathways. For instance, patients with ER- and PR-positive breast cancer often find responsiveness to endocrine therapy, whereas those with HER2 overexpression may benefit from anti-HER2 targeted therapies. This intricate interplay of molecular markers underscores the human dimension of cancer biology, guiding our therapeutic strategies with precision and empathy.
Molecular markers in lung cancer
Lung cancer, a leading cause of cancer-related deaths worldwide, harbors molecular markers like epidermal growth factor receptor (EGFR) mutations, anaplastic lymphoma kinase (ALK) rearrangements, and ROS1 rearrangements. The detection of these markers is essential for tailoring targeted therapies and assessing patient prognosis. For instance, EGFR-mutated lung cancers respond well to tyrosine kinase inhibitors, whereas patients with ALK or ROS1 rearrangements may benefit from targeted therapies directed against these specific alterations.
Molecular markers of colorectal cancer
Colorectal cancer is a common malignancy of the gastrointestinal tract. Common molecular markers of colorectal cancer include microsatellite instability (MSI) status, KRAS and NRAS mutations, etc. Colorectal cancer patients with KRAS and NRAS mutations are insensitive to certain targeted therapies, so testing for these markers can help avoid unnecessary treatment and reduce the financial burden on patients.
Molecular markers for thyroid cancer
Thyroid cancer is the most common malignancy of the endocrine system. Common molecular markers of thyroid cancer include BRAF mutations, RET/PTC rearrangements, and TERT promoter mutations. Detection of these markers is of great value in the diagnosis, prognosis, and treatment selection of thyroid cancer. For example, thyroid cancer patients with BRAF mutations usually have a poorer prognosis and may require more aggressive treatment strategies.
Overview of other cancer-related molecular markers
In addition to the various common cancer molecular markers mentioned above, many other molecular markers are closely associated with the occurrence and development of cancer. These markers may involve different biological pathways and signaling pathways, such as the PI3K/AKT/mTOR pathway, the Wnt/β-catenin pathway, and so on. With further research, more and more novel molecular markers will be discovered, providing more options for personalized cancer treatment.
Detection Methods of Cancer Molecular Markers
There are various detection methods for cancer molecular markers, mainly including molecular biology techniques, protein analysis techniques, and imaging techniques.
Cancer molecular biomarkers (Chang et al., 2025)
Molecular biology techniques
PCR (polymerase chain reaction) and qPCR (real-time fluorescent quantitative PCR) are among the most commonly used molecular biology techniques. Sanger sequencing, on the other hand, is a classic method for determining DNA sequences that can be used to validate the results of PCR and qPCR and to discover new mutation sites. These techniques are highly sensitive and specific and are one of the most important tools for the detection of cancer molecular markers.
NGS technology, through parallel sequencing, enables the high-throughput detection of cancer-related genetic mutations, structural variations, and gene expression profiles. Compared to traditional sequencing methods, NGS offers significantly higher throughput and reduced costs. This allows for the rapid provision of comprehensive genomic information crucial for cancer research, establishing it as a core technology in precision medicine.
Protein analysis techniques
Western blotting and ELISA (enzyme-linked immunosorbent assay) are commonly used protein analysis techniques. Western blotting can be used to assess the status of cancer molecular markers by detecting the expression level of specific proteins in cells or tissues. ELISA, on the other hand, is a quantitative protein assay that can be used to screen and validate potential cancer biomarkers. These techniques are vital for detecting cancer molecular markers, attributable to their simplicity and reliability.
Imaging techniques
PET (Positron Emission Tomography) and MRI (Magnetic Resonance Imaging) are important imaging techniques used for in vivo marker detection. They can assess the status of molecular markers of cancer by looking at the distribution and metabolism of specific molecules in the body. For instance, PET-CT merges the strengths of PET and CT (computed tomography) to pinpoint tumors more precisely and evaluate their metabolic activity. With the advantages of being non-invasive and intuitive, these imaging techniques are valuable in the early diagnosis, staging, and treatment monitoring of cancer.
Emerging technologies
CRISPR-Cas screening and liquid biopsy are molecular marker detection technologies for cancer that have emerged in recent years. CRISPR-Cas screening uses CRISPR gene editing technology to screen and identify genes and pathways associated with cancer development and progression. Liquid biopsy, on the other hand, assesses the status of cancer molecular markers by detecting circulating tumor cells (CTCs) or free DNA (cfDNA) in a patient’s blood. These emerging technologies have the advantages of high throughput and rapidity, providing new ideas and methods for detecting cancer molecular markers.
Applications of Molecular Markers for Cancer
As cancer research and clinical practice converge, the application of molecular markers is transforming the landscape of cancer care. These markers, once mere theoretical constructs, are now playing a pivotal role in every stage of cancer management. They provide a scientific backbone, supporting early detection efforts, guiding treatment decisions, and monitoring patient responses. Each breakthrough, fueled by our deepening understanding of cancer biology, brings us one step closer to realizing the promise of precision medicine.
In the realm of tumor biology research, liver metastasis of colorectal cancer, being a critical stage that significantly impacts patients’ prognosis, has long been a focal point and a challenging area of study. Blank-Landeshammer and their colleagues delved into liver metastasis of colorectal cancer by employing proteomics, a vital molecular labeling technique. The study focused on a large number of clinical samples and analyzed the expression of numerous proteins, with a particular focus on the KRAS gene and its mutant KRASG12V. The results showed significant differences in the expression of KRAS between tumor and healthy tissues, with a high percentage of KRASG12V mutants in some of the samples, but there are some special cases, such as the individual genes showing KRASG12V mutation, the wild-type KRAS still accounted for a large proportion of patients. This result not only enriches the molecular map of colorectal cancer liver metastasis but also highlights the complementary role of proteomics data in precision oncology. This indicates that integrating genomic and proteomic data can offer a more holistic evaluation of a patient’s disease state and lay a solid foundation for crafting personalized treatment strategies, thereby underscoring the significant value of molecular markers in cancer research and clinical application.
Protein analysis techniques in colorectal cancer liver metastases(Blank-Landeshammer et al., 2019)
Huang et al. investigated the metastatic phenomenon associated with human epithelial-mesenchymal transition (EMT) using proteomics and liquid biopsy as key molecular markers in colorectal cancer patients. Using advanced proteomics technology, the research team comprehensively analyzed the changes in the protein expression profiles of colorectal cancer cells during the EMT process, and at the same time, combined with liquid biopsy, the research team accurately detected circulating tumor cells and related biomarkers in the patient’s blood. The analysis identified several protein molecules associated with EMT and important in colorectal cancer metastasis, which play a key role in the invasion, migration, and distant metastasis of tumor cells. The results show that specific protein expression patterns are closely associated with metastatic risk and prognosis in colorectal cancer patients. This result not only deepens the understanding of the metastatic mechanism associated with EMT in colorectal cancer, but also highlights the important application value of proteomics and liquid biopsy molecular markers in the early diagnosis, disease monitoring, and prognosis assessment of cancer, and provides new ideas and potential targets for precision therapy of colorectal cancer.
Molecular techniques combining proteomics technology and liquid biopsy technology for cancer research applications (Huang et al., 2022)
Advantages and Limitations of Cancer Molecular Markers
Cancer molecular markers have many advantages in cancer research and diagnosis, but they also have some limitations.
Advantages of molecular cancer labeling
First, cancer molecular markers are highly specific and sensitive and can accurately reflect the presence and status of cancer. Secondly, these markers are closely related to the occurrence and development of cancer and can therefore provide strong support for early diagnosis, prognosis, and treatment selection in cancer. In addition, with the continuous development of biotechnology, more and more novel molecular markers are being discovered and applied, providing more options for personalized cancer treatment. Because of these advantages, cancer molecular markers have a broad application prospect in cancer clinical practice.
Limitations of molecular cancer markers
Despite the many advantages of cancer molecular markers, they also have some limitations. Firstly, molecular markers differ between different types of cancer and therefore require targeted detection and analysis for different types of cancer. Secondly, the expression status of certain molecular markers can be affected by a variety of factors, such as genetic background and environmental factors, which can lead to false-positive and false-negative test results. In addition, some cancers still lack reliable molecular markers for diagnosis and treatment monitoring. These limitations have, in some cases, limited the application and promotion of cancer molecular markers.
Prospective Future and Summary of Cancer Molecular Marker
With the continued development of biotechnology and in-depth cancer research, the study of cancer molecular markers will have a broader perspective.
Future Prospects
As biotechnology continues to advance and cancer research deepens, the study of cancer molecular markers promises a brighter future. The discovery of novel molecular markers, driven by high-throughput sequencing, proteomics, and metabolomics, will further enrich our understanding of cancer biology and provide additional biomarkers for early diagnosis, prognostic assessment, and therapeutic selection. Furthermore, the integration of multi-omics data, innovation in liquid biopsy technology, and the integration of artificial intelligence and machine learning will propel cancer molecular marker research to new heights. This convergence of trends signifies that cancer molecular markers will continue to play a pivotal role in the era of precision oncology, offering more precise, efficient, and personalized treatment options for cancer patients.
Conclusion
In summary, the continuous discovery of novel molecular markers and the rapid development of related technologies are leading cancer research toward a new era of greater precision, efficiency, and personalization. These results not only deepen our understanding of the nature of cancer but also provide more scientific and precise solutions for the clinical treatment of cancer, bringing new hope to cancer patients. In the future, as research continues to deepen and technology continues to advance, we have reason to believe that cancer will no longer be an invincible disease, and mankind will usher in a new dawn of victory over cancer.
To further explore the methodologies and applications in this field, the following topics provide a comprehensive guide:
References
- Chang YS, Ojcius DM. "Advancing cancer diagnosis and treatment: Integrating molecular biomarkers and emerging technologies." Biomed J. 2025 Jan 27;48(1):100831. https://doi.org/10.1016/j.bj.2025.100831
- Blank-Landeshammer B, Richard VR., et al. "Proteogenomics of Colorectal Cancer Liver Metastases: Complementing Precision Oncology with Phenotypic Data." Cancers (Basel). 2019 Dec 1;11(12):1907. https://doi.org/10.3390/cancers11121907
- Huang MS, Fu LH., et al. "Proteomics and liquid biopsy characterization of human EMT-related metastasis in colorectal cancer." Front Oncol. 2022 Sep 28;12:790096. https://doi.org/ 10.3389/fonc.2022.790096