Soluble normal and mutated DNA sequences from single-copy genes in human blood

• Published in: Cancer epidemiology, biomarkers & prevention Vol. 3; no. 1; pp. 67 - 71
• Main Authors: Sorenson, G D, Pribish, D M, Valone, F H, Memoli, V A, Bzik, D J, Yao, S L
• Format: Journal Article
• Language: English
• Published: United States American Association for Cancer Research 01-01-1994
• Subjects: Aged; Base Sequence; Cystic Fibrosis - genetics; DNA Mutational Analysis; Female; Gene Amplification; Genes, ras - genetics; Humans; Male; Middle Aged; Molecular Sequence Data; Pancreatic Neoplasms - genetics; Polymerase Chain Reaction; Reference Values
• ISSN: 1055-9965; 1538-7755

Healthy individuals have soluble (extracellular) DNA in their blood, and increased amounts are present in cancer patients.
Here we report the detection of specific sequences of the cystic fibrosis and K-ras genes in plasma DNA from normal donors
by amplification with the polymerase chain reaction. In addition, mutated K-ras sequences are identified by polymerase chain
reaction utilizing allele-specific primers in the plasma or serum from three patients with pancreatic carcinoma that contain
mutated K-ras genes. The mutations are confirmed by direct sequencing. These results indicate that sequences of single-copy
genes can be identified in normal plasma and that the sequences of mutated oncogenes can be detected and identified with allele-specific
amplification by polymerase chain reaction in plasma or serum from patients with malignant tumors containing identical mutated
genes. Mutated oncogenes in plasma and serum may represent tumor markers that could be useful for diagnosis, determining response
to treatment, and predicting prognosis.