Role of biomarkers in cancer research and treatment

By Avishek Majumder on January 4, 2019

Biomarkers are referred to as any substance, structure or process that can be analyzed in the body and helps in predicting disease. Biomarkers have a crucial role in the early detection, diagnosis, and management of treatment for major diseases like cancer and heart diseases. This article presents the role of biomarkers in cancer research and treatment.

Cancer biomarkers

Various types of molecules, such as DNA (genes), proteins or hormones, can serve as biomarkers. Cancer biomarkers can include proteins, gene mutations (changes), gene rearrangements, extra copies of genes, or missing gene. On the other hand, some cancer biomarkers help in the prediction of the extent of cancer growth. Therefore, they are useful in the prognosis of the disease and helpful in treatment (Gaudreau, 2016). The biomarkers are mainly classified as Molecular biomarkers; Tumor suppressors lost in cancer i.e. BRCA1 and BRCA2, RNA i.e. micro RNA and m RNA, and proteins like Prostate-specific antigen and CA 125 (Shinmura et al., 2014).

Classification of biomarkers used for cancer research and treatment (Santosh, Jones and Harvey, 2016).
Classification of biomarkers used for cancer research and treatment (Santosh, Jones and Harvey, 2016).

Role of biomarkers in cancer research

The following table shows the role of biomarkers in cancer research;

S. No.
Key Role
1. Identifying the risk of having cancer Presence of BRCA1 and BRCA2 is predictive of breast and ovarian cancer in an individual (Verma and Manne, 2006)
2. Diagnosing the presence of cancer cells Diagnosis of oral cancer can be done by proteomic marker CLAC2 (Shinmura et al., 2014).
3. Identifying and inhibiting a biomarker A protein biomarker, HER2 which is found to be overexpressed in cancer cells only leading to uncontrolled growth and division. So, the treatment is provided to disrupt the signalling pathway for HER2 gene and helps in stopping cancer’s growth (Tsimberidou et al., 2012).
4. Supporting the molecular action of the treatment SPARC gene (Secreted Protein, Acidic, Cysteine-Rich) helps to bring albumin into the cells. These albumin cells are eventually bound to chemotherapeutic drugs which prevent the drugs from dissolving in the bloodstream before reaching the target. Therefore, overexpression of SPARC is an effective way of treatment right into the cancer cells (Von Hoff et al., 2010).
5. Identifying the effective course of treatment As some cancer treatment drugs are designed to disrupt the tumor DNA as they have platinum as their component. However, ERCC1 protein biomarker is identified as an inhibitor of these kinds of treatment as it has a role in repairing the tumor DNA (Von Hoff et al., 2010).
6. Monitoring the response of treatment S100 beta is a protein marker produced highly in case of melanoma cancer (Von Hoff et al., 2010).
7. Predicting the recurrence of cancer HER2 biomarkers are used to determine the effectiveness of trastuzumab treatment for breast cancer in women (Fehm et al., 2007).

Identification of biomarkers in cancer research

With the increasing utility of biomarkers due to its advantages in the field of cancer research, there is a huge scope for new and better biomarkers. Here a comprehensive approach to evaluating and validating new biomarkers is presented;

Steps to evaluate and validate new biomarkers (Kumar, Mohan and Guleria, 2006)
Steps to evaluate and validate new biomarkers (Kumar, Mohan, and Guleria, 2006)

Current and future significances

Biomarkers are also very helpful in drug development against cancer. Nowadays, a practice of surrogate endpoints is being used very prominently in the area of cancer research (Shinmura et al., 2014). As the focus should be laid entirely on the biomarkers that provide better treatment and will lead to a prolonged survival rate after the treatment. So the inefficient biomarkers must be eliminated in earlier phases of the clinical trials to save the energy and cost. Currently, CTC (circulating tumour cells) and micro RNA are the two cancer biomarkers that are proved to be very effective as endpoint surrogates (Tsimberidou et al., 2012). In future, they can be a potent tool for tumour progression and metastasis.

Challenges in the identification of the role of cancer biomarkers

The major challenge is the development of the new biomarkers for the detection of cancer. There are methods involving various screening steps so that effective biomarkers are discovered (Tsimberidou et al., 2012). These biomarkers are selected on the basis of various properties. Moreover, they are simultaneously compared with the existing biomarkers to check their efficiency in diagnosing the disease (Gaudreau, 2016). Early detection of cancer is also taken into account while screening various putative biomarkers as it is helpful in decreasing the mortality rate caused by cancer among the entire population.

Biomarkers are widely used in the diagnosis and treatment of various types of cancer these days. And there is the wide scope of improvements in this area of research due to the development of proteomics and genomics platforms along with the introduction of immunotherapy in finding all the possible biomarkers for cancer diagnosis, prognosis and treatment as well. There is a need for acquiring more such cancer biomarkers for a more refined diagnostic and treatments for wide varieties of cancers.


  • Fehm, T. et al. (2007) ‘Determination of HER2 status using both serum HER2 levels and circulating tumor cells in patients with recurrent breast cancer whose primary tumor was HER2 negative or of unknown HER2 status’, Breast Cancer Research, 9(5), p. R74. doi: 10.1186/bcr1783.
  • Gaudreau, P.-O. et al. (2016) ‘The Present and Future of Biomarkers in Prostate Cancer: Proteomics, Genomics, and Immunology Advancements’, Biomarkers in Cancer, 1, p. 15. doi: 10.4137/BIC.S31802.
  • Von Hoff, D. D. et al. (2010) ‘Pilot study using molecular profiling of patients' tumors to find potential targets and select treatments for their refractory cancers.’, Journal of Clinical Oncology, 28(33), pp. 4877–4883. doi: 10.1200/JCO.2009.26.5983.
  • Kumar, S., Mohan, A. and Guleria, R. (2006) ‘Biomarkers in cancer screening, research and detection: Present and future: A review’, Biomarkers, 11(5), pp. 385–405. doi: 10.1080/13547500600775011.
  • Santosh, A. R., Jones, T. and Harvey, J. (2016) ‘A review on oral cancer biomarkers: Understanding the past and learning from the present’, Journal of Cancer Research and Therapeutics, 12(2), p. 486. doi: 10.4103/0973-1482.176414.
  • Shinmura, K. et al. (2014) ‘CLCA2 as a novel immunohistochemical marker for differential diagnosis of squamous cell carcinoma from adenocarcinoma of the lung’, Disease Markers, 2014. doi: 10.1155/2014/619273.
  • Tsimberidou, A.-M. et al. (2012) ‘Personalized medicine in a phase I clinical trials program: the MD Anderson Cancer Center initiative.’, Clinical cancer research : an official journal of the American Association for Cancer Research, 18(22), pp. 6373–83. doi: 10.1158/1078-0432.CCR-12-1627.
  • Verma, M. and Manne, U. (2006) ‘Genetic and epigenetic biomarkers in cancer diagnosis and identifying high risk populations’, Cancer, 60, pp. 9–18. doi: 10.1016/j.critrevonc.2006.04.002.