This invention relates to detection of specific
extracellular nucleic acid in
plasma or serum fractions of human or animal blood associated with neoplastic, pre-malignant or
proliferative disease. Specifically, the invention relates to detection of
nucleic acid derived from
mutant oncogenes or other tumor-associated
DNA, and to those methods of detecting and monitoring
extracellular mutant oncogenes or tumor-associated
DNA found in the
plasma or serum fraction of blood by using
DNA extraction with or without enrichment for
mutant DNA. In particular, the invention relates to the detection, identification, or monitoring of the existence, progression or clinical status of benign, premalignant, or malignant neoplasms in humans or other animals that contain a
mutation that is associated with the
neoplasm through detection of the mutated
nucleic acid of the
neoplasm in
plasma or serum fractions. The invention permits the detection of
extracellular, tumor-associated nucleic acid in the serum or plasma of humans or other animals recognized as having a neoplastic, pre-malignant or
proliferative disease or in individuals without any prior history or diagnosis of neoplastic, pre-malignant or
proliferative disease. The invention provides the ability to detect extracellular nucleic acid derived from genetic sequences known to be associated with neoplasia, such as oncogenes, as well as genetic sequences previously unrecognized as being associated with neoplastic, pre-malignant or proliferative
disease. The invention thereby provides methods for early identification of colorectal, pancreatic,
lung, breast, bladder, ovarian,
lymphoma and other malignancies carrying tumor-related mutations of DNA and methods for monitoring
cancer and other neoplastic disorders in humans and other animals.