What Are Biomarkers in Cancer and How Are They Used?

Cancer biomarkers are measurable indicators that provide insights into cancer’s presence, progression, or its response to treatment. These biological markers can be detected in various samples, such as blood, tissue, or other bodily fluids. They serve as important signals, helping medical professionals understand the characteristics of an individual’s cancer.

Defining Cancer Biomarkers

A cancer biomarker is a characteristic that can be measured and evaluated, reflecting biological processes or responses to therapy. They can include molecules, cells, or physiological changes. For example, a specific protein produced by cancer cells or a genetic alteration within tumor DNA can act as a biomarker. Biomarkers help differentiate between healthy individuals and those with cancer, or provide details about the disease state. They can be found in various biological media, including blood, urine, or tissue.

Categories of Cancer Biomarkers

Cancer biomarkers are broadly categorized into molecular, cellular, and imaging biomarkers.

Molecular Biomarkers

Molecular biomarkers involve alterations at the genetic or protein level. These include genetic mutations, changes in gene expression, or specific proteins produced by cancer cells. For instance, a particular gene mutation like BRAF V600E in melanoma or HER2 protein overexpression in breast cancer are molecular biomarkers.

Cellular Biomarkers

Cellular biomarkers involve abnormal cells or components. A common example is circulating tumor cells (CTCs), which are cancer cells shed from a primary tumor that travel through the bloodstream. These cells can be detected in blood samples and offer information about tumor spread.

Imaging Biomarkers

Imaging biomarkers are visual indicators from medical scans. They show patterns or changes in tumor size, shape, or metabolic activity using techniques like Positron Emission Tomography (PET), Magnetic Resonance Imaging (MRI), or Computed Tomography (CT) scans. For example, the uptake of a radioactive tracer in a PET scan can reveal areas of high metabolic activity, indicating the presence of a tumor.

Applications in Cancer Management

Biomarkers have diverse applications in cancer management.

Diagnosis and Screening

In diagnosis and screening, biomarkers can help detect cancer early or confirm its presence. For example, the prostate-specific antigen (PSA) test is used to screen for prostate cancer, though its specificity can vary. They also aid in distinguishing between benign and malignant conditions.

Prognosis

Biomarkers are also used for prognosis, predicting the disease’s likely course. They can indicate how aggressive a cancer might be or its probability of recurrence. For example, certain gene expression signatures in breast cancer can help estimate the risk of recurrence.

Treatment Guidance

Biomarkers are also predictive, guiding treatment decisions by identifying which patients are most likely to respond to specific therapies. This is relevant for targeted therapies that act on specific molecular pathways. For instance, EGFR mutations guide treatment in non-small cell lung cancer, and HER2 overexpression indicates responsiveness to specific breast cancer drugs.

Monitoring

Biomarkers also play a role in monitoring the disease over time. They can track how well a patient is responding to treatment, detect disease progression, or signal a recurrence. Regularly measuring certain tumor markers in the blood, such as CEA for colorectal cancer, helps assess treatment effectiveness and detect any return of the disease.

The Role of Biomarkers in Precision Oncology

Biomarkers are key to precision oncology, an approach that tailors cancer treatment to an individual’s cancer characteristics. This approach moves beyond a one-size-fits-all model by using biomarker testing to identify specific genetic or molecular alterations in a patient’s tumor. By understanding these individual characteristics, clinicians can select treatments that are most likely to be effective while minimizing unnecessary side effects for patients who would not benefit. This personalized strategy leads to more targeted and efficient therapies, improving patient outcomes.