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In genetics, a biomarker (identified as genetic marker) is a DNA sequence that causes disease or is associated with susceptibility to disease. They can be used to create genetic maps of whatever organism is being studied.ne example of a commonly used biomarker in medicine is prostate-specific antigen (PSA). This marker can be measured as a proxy of prostate size with rapid changes potentially indicating cancer.
The mapping of the human genome has created new opportunities for genetic tests to predict, prevent and treat disease. Tests such as BRCA 1 and 2 for breast cancer and HNPPC testing for colorectal cancer can assess disease risk and guide screening and preventive measures.