A cancer biomarker is a substance or process in the body that indicates the presence of cancer. A biomarker is a molecule secreted by a tumour or a specific body response to the presence of cancer. Cancer diagnosis, prognosis, and epidemiology can all benefit from genetic, epigenetic, proteomic, glycomic, and imaging biomarkers. Such biomarkers should ideally be tested in non-invasively collected biofluids such as blood or serum. While there are numerous challenges in translating biomarker research into clinical practise, a number of gene and protein-based biomarkers, such as AFP (liver cancer) and BCR-ABL, have already been used in patient care. BRAF V600E (melanoma/colorectal cancer), CA-125 (ovarian cancer), CA19.9 (pancreatic cancer), CEA (colorectal cancer), EGFR (Non-small-cell lung carcinoma), HER-2 (Breast Cancer), KIT (gastrointestinal stromal tumour), PSA (prostate specific antigen) (prostate cancer), S100 (melanoma), and many others. Because they can only come from an existing tumour, mutant proteins detected by selected reaction monitoring (SRM) have been reported to be the most specific biomarkers for cancers. Approximately 40% of cancers are curable if detected early through examinations. Cancer biomarkers, particularly those associated with genetic mutations or epigenetic alterations, frequently provide a quantitative way to predict when people are predisposed to certain types of cancer. 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 tumour suppressor genes p16, CDKN2B, and p14ARF for brain cancer; hyper methylation of MYOD1, CDH1, and CDH13 for cervical cancer; and hyper methylation of p16, p14, and RB1, for oral cancer. Another application of biomarkers in cancer medicine is disease prognosis, which occurs after a person has been diagnosed with cancer. In this case, biomarkers can help determine the aggressiveness of a cancer as well as its likelihood of responding to a given treatment. This is due, in part, to the fact that tumours displaying specific biomarkers may be responsive to treatments based on the expression or presence of that biomarker. Elevated levels of metallopeptidase inhibitor 1 (TIMP1), a marker associated with more aggressive forms of multiple myeloma, are one example of a prognostic biomarker. elevated oestrogen receptor (ER) and/or progesterone receptor (PR) expression, markers linked to improved overall survival in breast cancer patients Amplification of the HER2/neu gene, a marker for breast cancer, will likely respond to trastuzumab treatment; a mutation in exon 11 of the proto-oncogene c-KIT, a marker for gastrointestinal stromal tumour (GIST), will likely respond to imatinib treatment; and mutations in the tyrosine kinase domain of EGFR1, a marker for non-small-cell lung carcinoma (NSCLC). Cancer biomarkers can also be used to determine the most effective cancer treatment regimen for a specific individual. Some people metabolise or change the chemical structure of drugs differently due to differences in their genetic makeup. In some cases, decreased drug metabolism can lead to dangerous situations in which high levels of the drug accumulate in the body. As a result, screening for such biomarkers can help with drug dosing decisions in cancer treatments. The gene encoding the enzyme thiopurine methyl-transferase is one example (TPMPT).  Individuals with TPMT gene mutations are unable to metabolise large amounts of the leukaemia drug mercaptopurine.

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