Cancer biomarkers are molecules found in blood, urine or tissues that are indicators of normal or abnormal processes, or of a condition or disease. Biomarkers can help detect and monitor cancer, as well as see how well a person responds to treatment. By understanding biomarkers, doctors can develop improved strategies for cancer detection and management.
Types of Cancer Biomarkers
There are several different types of cancer biomarkers that can be detected and analyzed.
Genetic Biomarkers
Genetic Cancer Biomarkers involve changes or mutations that have occurred in a person's DNA. Certain genetic mutations are known to increase cancer risk. For example, mutations in the BRCA1 and BRCA2 genes increase the risk of breast and ovarian cancers. Detecting these genetic alterations through tests like genetic testing can help determine a person's cancer likelihood.
Protein Biomarkers
Proteins are involved in many cellular functions and processes. When cancer develops or progresses, abnormal amounts of certain proteins may be released into the blood, urine or body tissues. Examples of protein biomarkers include CA-125 for ovarian cancer and PSA for prostate cancer.
Epigenetic Biomarkers
Epigenetics refers to chemical modifications to DNA that change gene expression without altering the underlying DNA sequence. Epigenetic changes like DNA methylation can promote cancer by switching genes on or off at the wrong times. Abnormal patterns of DNA methylation or other epigenetic changes may serve as biomarkers.
Circulating Tumor Biomarkers
As tumors grow and spread, cancer cells may release substances into the bloodstream. Detecting these circulating tumor biomarkers provides valuable information about the presence, location and volume of cancer, as well as how a patient may be responding to treatment. Examples include circulating tumor DNA (ctDNA) and exosomes.
Imaging Biomarkers
Medical imaging technologies allow visualization of anatomical or physiological changes associated with cancer. Features seen on imaging tests like MRI, CT or PET scans can act as imaging biomarkers, providing clues about cancer diagnosis, prognosis or therapy response. Tumor volume measurements and detection of metastatic lesions are key imaging biomarkers.
The Role of Biomarkers in Cancer Screening
The identification of reliable cancer biomarkers holds great promise for advancing screening strategies. Screening biomarkers allow detection of cancer at its earliest, most treatable stages by identifying molecular changes that occur before a tumor is clinically apparent. Examples of successful screening biomarkers include:
Prostate Specific Antigen (PSA) for Prostate Cancer
While PSA screening remains controversial, when first introduced in the 1980s it led to a big increase in early-stage prostate cancer diagnoses. However, PSA is not prostate cancer specific and many unnecessary biopsies were performed due to false positives. Newer prostate cancer biomarkers may prove more accurate.
CA-125 for Ovarian Cancer
Elevated levels of CA-125 correlate with ovarian cancer but it is not very specific or sensitive as a screening tool on its own. Used along with other biomarkers and transvaginal ultrasound, it shows promise to help identify ovarian cancer at an earlier stage.
Fecal Immunochemical Tests (FIT) for Colon Cancer
FIT screening looks for hidden blood in the stool, which can be an early sign of colon cancer. When used annually or biennially in average risk individuals age 50-75, FIT screening has been found highly effective at reducing colon cancer incidence and deaths.
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