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Developing a Novel Cell-free DNA Methylation Assay for Noninvasive Early Detection of Lung Cancer

Institution: Stanford University
Investigator(s): Emily Hamilton,
Award Cycle: 2019 (Cycle 30) Grant #: T30DT0806 Award: $151,350
Subject Area: Cancer
Award Type: Dissertation Awards

Initial Award Abstract
Lung cancer is the number one cause of cancer deaths in the world, but it can be cured if it is detected when tumors are small and have not spread. Unfortunately, lung cancer is not usually caught at this early stage, as small tumors such as these remain asymptomatic. Because of this, the survival rate for lung cancer as a whole is bleak. I am interested in developing new ways of detecting lung cancer earlier. An ideal early detection test would be (a) easily accessed by at-risk populations; (b) inexpensive; (c) accurate at detecting the presence of cancer; (d) noninvasive. All of us have short fragments of free-floating DNA in our bloodstreams that is released when cells naturally die and turn over. This DNA is referred to as cell-free DNA, or cfDNA. In a person who has cancer, some fraction of the total cfDNA originates from the tumor cells. Because tumors differ from healthy cells by the presence of mutations, tumor-derived cfDNA can be detected by looking for the presence of these mutations, and my lab has excelled at using these mutations to detect cancer noninvasively. In addition to mutations, tumor cells also differ from healthy cells in the ways they control their genes, a term that can be collectively called their 'epigenome.' The cell-free DNA epigenome has not been extensively studied as a biomarker for cancer early detection, and I am interested in developing a new method that uses the epigenome and mutations together to help detect lung cancers earlier.