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Biomarkers 101  

If you’ve recently been diagnosed with cancer or begun cancer therapy, you’ve probably had to learn a lot of new terms related to your cancer type, treatment, and the challenges of living with cancer. “Biomarker” is a term you may not be familiar with. Researchers are paying more attention to the role biomarkers play in cancer cell development, growth, and spread as they understand more about how cancer cells form, grow and spread. Understanding cancer biomarkers is critical to designing a treatment strategy that is suited for you, even if it doesn’t seem clear at first. 

A cancer biomarker is a substance or activity that can be used to detect the presence of cancer in the body. A biomarker (short for biological marker) may be a molecule secreted by a tumor or a specific response of the body to the presence of cancer. 

Patients with the same cancer type used to receive the same treatment, but research has revealed that tumors, even within the same cancer type, have distinct characteristics. Physicians are increasingly relying on cancer biomarkers to learn more about a patient’s tumor and forecast which treatment will be most effective against their specific cancer. 


What Is a Biomarker? 

Cancer biomarkers are biological substances produced by a cancer patient’s body or tumor. Biomarker testing aids in the identification of tumor changes. Biomarkers are particular to the tumor DNA, RNA, protein, or metabolomic profiles. Genomic testing, which examines the DNA sequence, DNA or RNA tests to look for gene fusions, and tests to assess RNA or protein levels are all examples of testing. 

Biomarkers can be used for several purposes: 

  • Assess an individual’s risk of developing cancer 
  • Determine an individual’s risk of cancer recurrence 
  • Predict the likelihood that a given therapy will work for a specific patient 
  • Monitor a disease’s progression to determine if a therapy is working 

After biomarkers have been identified, the next step is to see if any of the changes are actionable, or if there is a genetic change driving tumor growth that can be addressed with an existing medicine. 

Although there is a lot of effort on developing novel targeted therapy medications that disrupt key drivers of cancer growth, not all cancer types have biomarkers that can be identified right now. Biomarker-guided treatment has been demonstrated to extend patients’ lifespan in studies. Researchers study new ways to identify and treat cancer with biomarkers in clinical trials. 


What Are Examples of Biomarkers? 

Notable examples of potentially predictive cancer biomarkers include: 

  • mutations on genes KRAS, p53, EGFR, erbB2 for colorectal, esophageal, liver, and pancreatic cancer. 
  • mutations of genes BRCA1 and BRCA2 for breast and ovarian cancer. 
  • abnormal methylation of tumor suppressor genes p16, CDKN2B, and p14ARF for brain cancer. 
  • hypermethylation of MYOD1, CDH1, and CDH13 for cervical cancer  and hypermethylation of p16, p14, and RB1, for oral cancer. 


Types of Biomarkers 

There are two main types of tumor markers: circulating tumor markers and tumor tissue markers.  

Circulating tumor markers can be found in the blood, urine, stool, or other bodily fluids of some patients with cancer. Circulating tumor markers are used to: 

  • estimate prognosis 
  • determine the stage of cancer 
  • detect cancer that remains after treatment (residual disease) or that has returned after treatment 
  • assess how well a treatment is working 
  • monitor whether the treatment has stopped working 

Although an elevated level of a circulating tumor marker may suggest the presence of cancer and can sometimes help to diagnose cancer, this alone is not enough to diagnose cancer. For example, noncancerous conditions can sometimes cause the levels of certain tumor markers to increase. In addition, not everyone with a particular type of cancer will have a higher level of a tumor marker associated with that cancer. Therefore, measurements of circulating tumor markers are usually combined with the results of other tests, such as biopsies or imaging, to diagnose cancer. 

Tumor tissue (or cell) markers are found in the actual tumors themselves, typically in a sample of the tumor that is removed during a biopsy. Tumor tissue markers are used to: 

  • diagnose, stage, and/or classify cancer 
  • estimate prognosis 
  • select an appropriate treatment (e.g., treatment with a targeted therapy) 

Tumor tissue markers that indicate whether someone is a candidate for a particular targeted therapy are sometimes referred to as biomarkers for cancer treatment. Tests for these biomarkers are usually genetic tests that look for changes in genes that affect cancer growth. 


Do All Cancers Have Biomarkers? 

Some people’s DNA contains genes that can suggest an elevated risk of acquiring certain cancers. A person with particular mutations in BRCA1 and BRCA2, the so-called “breast cancer genes,” for example, has an increased risk of developing breast, ovarian, prostate, and other cancers. 

Most tumors, however, are not hereditary, and the vast majority of people diagnosed with cancer lack any of the “cancer genes” – at least none that we can currently discover. However, biomarkers exist for all cancers. 

Your cancer has a unique version of your DNA that is different from the DNA in your healthy cells. Most of the cancer biomarkers that have been associated with treatments have to do with your tumor’s unique genes and molecular structure, rather than your own genes. 


What Is Biomarker Testing? 

Your doctor will need to obtain a sample of tumor tissue or bodily fluid and submit it to a laboratory for a series of advanced pathology and molecular profiling tests in order to identify if, and at what amounts, specific biomarkers are present in your cancer. 

These tests will discover and analyze the amounts of biomarkers that are specific to your cancer. The data will then be compared to published research by the world’s top cancer researchers to determine which treatments are likely to work and which are not.  

Your doctor will then receive a report detailing all the biomarkers found in the sample, as well as the treatments found to be positively and negatively related to those biomarkers. This process allows your doctor to personalize your anticancer treatment plan based on your cancer’s unique biomarker profile.