Poster Presentation 31st Lorne Cancer Conference 2019

Fragment size characterization of cell-free DNA mutations from clonal hematopoiesis (#189)

Tingting Jiang 1 , Anne C Jager 1 , Sigrid Katz 1 , Jennifer S LoCoco 1 , Philip Le 1 , Dwight Baker 1 , Traci Pawlowski 1 , Sven Bilke 1 , Chen Zhao 1 , Gerald Goh 1
  1. Illumina, Inc, San Diego, USA

Circulating tumor DNA (ctDNA) is a noninvasive, real-time approach that can provide diagnostic and prognostic information for cancer patients before and after treatment. However, only a small fraction of cell-free DNA (cfDNA) fragments originate from tumor cells, while the majority of fragments come from hematopoietic cells. Somatic mutations harbored by hematopoietic cells (clonal hematopoiesis, CH) can be a major source of false positive mutations identified in cfDNA affecting clinical decisions. Therefore, it is critical to characterize and identify somatic mutations by clonal hematopoiesis. Here, we use a cfDNA TruSight Oncology (TSO) assay targeting 500+ genes to show that fragment size distribution of cfDNA released by malignant or healthy hematopoietic cells is different from that of cfDNA released by solid tumors, and develop a method leveraging fragment size distribution to differentiate somatic mutations from different cell origins.