Breakthrough Research in DNA Mutation Analysis Could Lead to Earlier Diagnosis and More Tools for Personalized Treatment for Cancer Patients

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WASHINGTON, Jan. 2, 2013 /PRNewswire/ -- New research appearing online today in Clinical Chemistry , the journal of AACC , shows that the analysis of DNA mutations in patients with cancer can be done without surgery. This paper by Chan et al. shows that the plasma of cancer patients also carries tumor-derived DNA. Because the DNA sequencing of plasma is non-invasive, this could lead to cheap and highly informative clinical tools for early cancer diagnosis and personalized therapy selection, granting better health outcomes to all cancer patients.

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Because all cancers occur due to abnormalities in DNA, scientists are able to use DNA sequencing to analyze the mutations in each patient's DNA. Once this sequencing is complete, doctors can match each patient to the best available drug for his or her particular cancer, thus personalizing the treatment for each patient and improving health outcomes. In the past, DNA sequencing has required tumor tissue, which could only be obtained by biopsying the tissue – an invasive procedure not ideal for the patient. In this study, Chan et al. explored the use of shotgun massively parallel sequencing of plasma DNA from cancer patients to scan a cancer genome without surgery.

The researchers extracted DNA from the tumor tissues of 4 liver patients and 1 breast and ovarian cancer patient, and then analyzed the preoperative and postoperative plasma samples of these patients. Through the use of multiregional sequencing of tumor tissues and shotgun sequencing of plasma DNA, the researchers have shown that plasma DNA sequencing is a powerful tool for cancer detection, monitoring, and research.

"This ground-breaking study uses brand new technology--the multiregional sequencing research tool will lead to routine practice leading to lower cost," said Eleftherios P. Diamandis, MD, PhD, FRCP(C), FRSC, Head of Clinical Biochemistry at Mount Sinai Hospital and Editor of this special issue of Clinical Chemistry . "This is the first time analysis has been done non-invasively instead of performing a biopsy on human tissue. The proof of principle is demonstrated and will be more readily available and cost effective in the future."