What are biomarkers? Biomarkers are molecules that indicate abnormal processes occurring in the body and may be a sign of an underlying condition or disease. Various molecules such as DNA (gene), protein, or hormones can be biomarkers since they all indicate something about your health. These substances can be produced by the cancer itself or normal body cells in response to the cancerous activities. They can be located in the blood, stool, urine, tumor tissues, or other bodily fluids. Biomarkers can include: Proteins Gene mutations Extra copies of genes Missing genes, and; Other molecules. What are biomarkers used for? Biomarkers are helpful in diagnosis, prognosis estimation, cancer stage determination, identification of residual or recurrent cancer post-treatment, evaluation of treatment efficacy, and monitoring for treatment cessation. For instance, biomarker test kits are a quick and cost-effective way to quantify enzyme activity in the bloodstream from proliferating tumor cells, which can help healthcare providers detect irregular activity in patients’ cells early on. A high level of circulating tumor markers may help diagnose and suggest the possibility of cancer. It is not, however, adequate to diagnose cancer on its own. Elevations of particular tumor markers might also result from non-cancer-related conditions. Moreover, not every patient with a specific form of cancer has high levels of the corresponding tumor marker. For a thorough cancer diagnosis, therefore, the evaluation of circulating tumor markers is usually combined with the findings of other tests, like biopsies or imaging. Five biomarkers you should know about There are numerous types of biomarkers. Here are five major ones you should know about. 1. Breast cancer 1 (BRCA1) & breast cancer 2 (BRCA2) gene mutations BRCA1 and BRCA2 are the genes linked with hereditary breast and ovarian cancer. These genes usually serve as defenses against specific types of cancer. However, certain mutations in BRCA1 and BRCA2 can interfere with their normal function, raising the risk of inherited breast, ovarian, and other cancers. The possibility of carrying a BRCA1 or BRCA2 mutation is increased in families with a high incidence of breast or ovarian cancer. Family members with BRCA1 or BRCA2 mutations usually have the same genetic altered state since these abnormalities are inherited. The process of testing for these biomarkers is known as genetic testing. Your physician may recommend testing with a multigene panel, which simultaneously searches for abnormalities in multiple genes, including BRCA1 and BRCA2. A positive test shows that you have mutations in the genes, which implies that you should be extra cautious in looking out for any signs and symptoms suggestive of breast or ovarian cancer. This would help in early diagnosis. A negative test shows you do not have any mutation in the genes and hence have a reduced risk of getting breast, ovarian, or other cancers. However, a negative result does not rule out the fact that you could still develop cancer in those organs as there are other associated risk factors other than BRCA 1 and BRCA 2 mutations. 2. Alpha-fetoprotein (AFP) In cases of chronic liver disorders, such as hepatitis and cirrhosis, AFP levels may steadily rise. Because certain tumors are linked to noticeably higher AFP concentrations, the AFP test is helpful as a tumor marker. Both hepatoblastoma, a rare liver cancer that mainly affects newborns, and hepatocellular carcinoma, the most frequent type of liver cancer, are associated with elevated AFP levels. Additionally, in some cases of ovarian or testicular cancer, increased AFP levels are found. 3. Prostate-specific antigen (PSA) Prostate cancer is one of the most frequent cancers among men in the EU. The rise in screening activities is correlated with the incidence. The increase in the incidence is associated with the rise in screening activities. A PSA screening test is commonly carried out for early diagnosis of prostate cancer. Prostate-specific antigen, or PSA, is produced by cells in your prostate and controls semen coagulation. It is thought that abnormalities in cellular architecture, which can circulate in both free and complex forms, cause elevated PSA levels. The FDA has approved PSA for prostate cancer (PCa) screening. 4. Carcinoembryonic antigen (CEA) As a non-specific serum biomarker, carcinoembryonic antigen (CEA) has higher levels in various cancers, including breast, ovarian, medullary thyroid, and colorectal. First discovered by Freedman and Gold in colon cancer cells, CEA has since been found in several types of stomach, tongue, oesophagal, cervix, and prostate epithelial cells. However, an increase in serum CEA may not always point to the exact location of cancer because it is associated with both malignant and nonmalignant medical problems. 5. Thymidine kinase (TK1) Thymidine kinase 1 (TK1) is essential in the synthesis of DNA precursors. One of the most accurate markers of active intracellular proliferation in cells is the overexpression of TK1. TK1 has been examined as a prognostic and diagnostic agent in cancer patients’ serum. TK1 is upregulated in various solid and haematological cancers according to the stage of the disease. For instance, in addition to several other cancer types, TK1 has been identified as a serum biomarker for breast, lung, colon, stomach, malignant melanoma, non-Hodgkin’s lymphoma, chronic lymphocytic leukaemia, acute lymphoblastic leukaemia, and acute myeloid leukaemia. Conclusion Biomarkers contribute significantly to the advancement of medicine in cancer care. The ongoing research and development of new biomarkers continue to enhance accurate understanding of cancer biology and improve the precision of diagnostic and therapeutic approaches. If you feel you might require some testing, speak to your healthcare provider right away.