ABSTRACT
The genomes of cancer cells harbor distinct sets of alterations, which contribute to the biology and characteristics of the individual tumors. Recurring genomic changes have been identified in several of the major human cancer forms, and the relationships of these changes with clinico-pathological parameters have been established. Highly specific and informative DNA biomarkers include point mutations, translocations, amplifications and aberrant promoter hypermethylation. All of these changes can be reliably detected in DNA from tumor biopsies and can provide qualitative and/or quantitative information. In addition, DNA is often released from tumor cells into extratumoral compartments such as blood, urine and sputum, and thus provides an ideal substrate for non-invasive detection of cancer. DNA-based analysis of cancer holds great promise for a wide range of applications, including early detection, diagnosis, assessment of prognosis, selection of treatment and detection of recurrence. Identification of the most powerful DNA biomarkers through genome-wide molecular mapping of human cancers will improve the diagnostic coverage and greatly aid in the design of targeted therapeutic approaches.
