Mark Sausen's Biography

Mark Sausen, Vice President, Research & Development, Personal Genome Diagnostics

Dr. Sausen joined Personal Genome Diagnostics in 2013 and currently serves as the Director of Research and Development. His prior research has focused on the development of novel tissue- and cell free DNA-based genomic approaches for the detection and analysis of cancer. Dr. Sausen has authored and co-authored several peer-reviewed articles in journals such as Science, Nature Genetics, and Science Translational Medicine on these topics. He received his B.A. from the University of Delaware in Biological Sciences and Ph.D. from the Johns Hopkins University in Cellular and Molecular Medicine where he was honored with the Hans J. Prochaska Young Investigator’s Award.

Detection and Monitoring of Chromosomal Alterations in the Circulation of Cancer Patients with Whole-Genome Sequencing

Tuesday, 25 March 2014 at 10:00

Add to Calendar ▼2014-03-25 10:00:002014-03-25 11:00:00Europe/LondonDetection and Monitoring of Chromosomal Alterations in the Circulation of Cancer Patients with Whole-Genome SequencingCirculating Biomarkers 2014 in Boston, Massachusetts, USABoston, Massachusetts, USASELECTBIOenquiries@selectbiosciences.com

Clinical management of cancer patients could be improved through the development of noninvasive approaches for the detection of incipient, residual, and recurrent tumors. We describe an approach to directly identify tumor-derived chromosomal alterations through analysis of circulating cell-free DNA from cancer patients. Whole-genome analyses of DNA from the plasma of colorectal and breast cancer patients and healthy individuals with massively parallel sequencing identified, in all patients, structural alterations that were not present in plasma DNA from healthy subjects. Detected alterations comprised chromosomal copy number changes and rearrangements, including amplification of cancer driver genes such as ERBB2, MET, and CDK6. The level of circulating tumor DNA in the cancer patients ranged from 0.3% to 47.9%. The sensitivity and specificity of this approach are dependent on the amount of sequence data obtained and are derived from the fact that most cancers harbor multiple chromosomal alterations, each of which is unlikely to be present in normal cells. Given that chromosomal abnormalities are present in nearly all human cancers, this approach represents a useful method for the noninvasive detection of human tumors that is not dependent on the availability of tumor biopsies.

Add to Calendar ▼2014-03-24 00:00:002014-03-25 00:00:00Europe/LondonCirculating Biomarkers 2014Circulating Biomarkers 2014 in Boston, Massachusetts, USABoston, Massachusetts, USASELECTBIOenquiries@selectbiosciences.com

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